KIT gene – Austra Health

The KIT gene, also known as c-kit, is a gene that plays a crucial role in various biological processes. It is related to a number of health conditions, including mastocytosis, leukemia, and germ cell tumors. Mutations in this gene can lead to the activation of KIT and the development of these diseases.

The KIT gene is located on chromosome 4q12 and encodes a transmembrane receptor tyrosine kinase. This receptor is primarily expressed in mast/stem cells, melanocytes, and certain other cell types, including testicular and gastrointestinal stromal cells. KIT protein binds to a factor called stem cell factor (SCF) and activates signaling pathways that are essential for the growth and survival of these cells.

Genetic testing for mutations in the KIT gene can be performed to diagnose various conditions, including mastocytosis and gastrointestinal stromal tumors. Some of the signs and symptoms associated with KIT gene mutations include systemic reactions to allergies, changes in white blood cells, and piebaldism, a condition characterized by patches of white skin and hair.

Additional resources for information on the KIT gene and related diseases can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Mastocytosis Society. These resources provide scientific articles, clinical guidelines, and other relevant information for clinicians, researchers, and patients interested in understanding the role of the KIT gene in disease development and treatment.

Health Conditions Related to Genetic Changes

The KIT gene is associated with various health conditions caused by genetic changes. These conditions can affect different systems and tissues in the body.

One of the conditions related to genetic changes in the KIT gene is mastocytosis. Mastocytosis is a disorder characterized by an excessive number of mast cells in the body. Mast cells are a type of white blood cell that plays a role in allergic reactions. The variant form of mastocytosis, known as systemic mastocytosis, can cause symptoms such as acute gastrointestinal reactions and allergic reactions.

Another condition linked to genetic changes in the KIT gene is piebaldism. Piebaldism is a rare genetic disorder that affects the pigmentation of the skin, hair, and eyes. It is caused by mutations in the KIT gene, which leads to the absence of melanocytes (pigment-producing cells) in certain areas of the body.

Genetic changes in the KIT gene can also be associated with certain types of cancers. For example, mutations in the KIT gene have been found in some cases of gastrointestinal stromal tumor (GIST) and acute myeloid leukemia (AML). These genetic changes can contribute to the development and progression of these cancers.

If there is a suspicion of a genetic change in the KIT gene, diagnostic tests can be performed to confirm the presence of such changes. Genetic testing can provide additional information about the specific gene changes and their impact on health. It can also help in determining the familial risk of certain diseases associated with the KIT gene.

References:

Clin Genet. 2001 Mar;59(3):201-8. PubMed PMID: 11272719.
Nasal ICCs on a gene test for KIT mutation in myeloid leukemia. PubMed PMID: 23487765.
Mastocytosis. In: Genetic and Rare Diseases Information Center (GARD). Bethesda (MD): National Center for Advancing Translational Sciences; 2000-
KIT cancer registry. Core genetic test information for KIT-related cancers. Cancer Genetics, Inc. Accessed on-

Piebaldism

Piebaldism is a genetic condition related to the KIT gene. It is characterized by the loss of melanocytes, the cells responsible for skin and hair color, resulting in patches of white skin and hair. Piebaldism is inherited in an autosomal dominant manner, meaning that a person with one copy of the gene variant has a 50% chance of passing the condition on to their children.

In addition to affecting the pigmentation of the skin and hair, piebaldism is sometimes also associated with other medical conditions. These can include changes in pigmentation of the eye, hearing loss, abnormalities of the intestine, and abnormalities of the central nervous system.

The KIT gene, which is located on chromosome 4, provides instructions for making a protein called c-kit. This protein is involved in the growth and development of melanocytes, as well as other cell types such as mast cells and germ cells. Changes in the KIT gene can disrupt the normal process of cell growth and development, leading to the features of piebaldism.

Diagnosis of piebaldism can be made based on the clinical signs and symptoms, but genetic testing can also be done to confirm the diagnosis. There are several resources available for genetic testing, including online genetic testing registries, scientific articles, and databases such as OMIM.

Treatment for piebaldism focuses on managing the cosmetic concerns associated with the condition. This can include using hair dye, skin camouflage products, or in some cases, surgical interventions.

It is important to note that piebaldism is not related to cancer or leukemia. However, mutations in the KIT gene have been found in some cases of acute myeloid leukemia and mastocytosis, a condition characterized by an abnormal accumulation of mast cells in various tissues.

Further research is needed to fully understand the role of the KIT gene in piebaldism and other related conditions. Studying this gene may provide important insights into the development and growth of melanocytes, as well as potential treatments for conditions involving these cells.

Gastrointestinal stromal tumor

A gastrointestinal stromal tumor (GIST) is a type of tumor that develops in the gastrointestinal tract. It is a variant of a tumor known as a gastrointestinal stromal tumor (GIST). GISTs are listed in the World Health Organization (WHO) classification of tumors, and their diagnosis and treatment are guided by a registry called the GIST Registry.

GISTs are primarily caused by genetic changes in a gene called c-kit. The c-kit gene codes for a protein called KIT, which is responsible for activating and regulating the growth of mast cells, stem cells, and other cells in the gastrointestinal tract. Genetic changes in the c-kit gene can lead to activation of the KIT protein and the development of GISTs.

GISTs can occur in any part of the gastrointestinal tract, including the stomach, small intestine, and colon. They can also occur in other organs and tissues, such as the omentum, mesentery, retroperitoneum, and esophagus. GISTs can be either benign (non-cancerous) or malignant (cancerous).

The diagnosis of GISTs is based on a variety of tests, including imaging studies, such as CT scans and MRIs, as well as biopsies and surgical procedures. Genetic testing can also be performed to identify specific genetic changes in the c-kit gene that are associated with GISTs.

GISTs are classified into different subtypes based on specific genetic changes in the c-kit gene or in a related gene called PDGFRA. These subtypes include the exon 11, exon 9, exon 13, exon 17, and wild-type GISTs. The genetic subtype of a GIST can provide important information about its behavior and response to treatment.

In addition to GISTs, genetic changes in the c-kit gene have been associated with other conditions, including mastocytosis and acute myeloid leukemia. Mastocytosis is a condition characterized by an excessive number of mast cells, which can cause allergic reactions and other symptoms. Acute myeloid leukemia is a type of blood cancer that affects the myeloid cells, which are responsible for producing red and white blood cells.

There are several databases and scientific catalogs, such as OMIM and PubMed, that provide additional information on the c-kit gene and its role in various diseases and conditions. These resources can be valuable references for clinicians and researchers studying gastrointestinal stromal tumors and related conditions.

GISTs can cause a range of signs and symptoms, depending on their size and location. Common signs and symptoms of GISTs include abdominal pain, gastrointestinal bleeding, nausea, vomiting, and weight loss. GISTs can also be asymptomatic and may be discovered incidentally during imaging studies or surgical procedures.

Treatment options for GISTs include surgery, targeted therapies, and chemotherapy. Surgical removal of the tumor is the primary treatment for localized GISTs, while targeted therapies, such as imatinib and sunitinib, are used to treat advanced or metastatic GISTs.

In summary, gastrointestinal stromal tumors are a type of tumor that develops in the gastrointestinal tract. They are primarily caused by genetic changes in the c-kit gene, which activate the KIT protein and promote the growth of mast cells and other cells. GISTs can be diagnosed through various tests, and treatment options include surgery, targeted therapies, and chemotherapy.

Systemic mastocytosis

In systemic mastocytosis, there are genetic changes in the KIT gene, leading to the activation of a variant of the c-kit protein. Mast cells, which are a type of white blood cell, are affected by these genetic changes.

Systemic mastocytosis is a rare disease that affects multiple tissues and organs in the body. It is characterized by an abnormal growth and accumulation of mast cells in various organs, including the bone marrow, gastrointestinal tract, and central nervous system.

One of the main signs of systemic mastocytosis is an excessive release of chemicals from mast cells, leading to allergic-like symptoms and reactions. These symptoms can range from mild to severe and can affect different parts of the body.

There are different types and subtypes of systemic mastocytosis, including indolent systemic mastocytosis, aggressive systemic mastocytosis, and systemic mastocytosis with associated hematologic neoplasm.

The diagnosis of systemic mastocytosis can be challenging and requires specialized testing. One of the key tests is a bone marrow biopsy, which can show an increased number of abnormal mast cells. Other tests, such as genetic testing and immunohistochemistry, may also be performed to confirm the diagnosis.

In addition to the KIT gene, other genes and genetic changes have been associated with systemic mastocytosis. Some of these genes include SRSF2, ASXL1, and RUNX1. These genetic changes can help classify the subtype and provide additional information about the disease.

Systemic mastocytosis is a complex disease with a wide range of clinical manifestations. It is important for individuals with suspected systemic mastocytosis to be evaluated by a specialist, such as a hematologist or allergist, who is familiar with the disease.

Resources and databases, such as the Mastocytosis Society, the Mastocytosis Registry, and the Online Mendelian Inheritance in Man (OMIM) catalog, provide valuable information and support for individuals with systemic mastocytosis and their families.

Further research and studies are needed to better understand the underlying mechanisms of systemic mastocytosis and develop effective treatments for this rare disease.

Core binding factor acute myeloid leukemia

Core binding factor acute myeloid leukemia (CBF-AML) is a type of myeloid leukemia characterized by chromosomal translocations involving the core binding factor (CBF) genes. CBF-AML is a subtype of acute myeloid leukemia (AML) and is associated with poor prognosis.

One of the key genes involved in CBF-AML is the KIT gene, also called c-kit. The KIT gene encodes a receptor tyrosine kinase protein that plays a critical role in the growth and development of mast/stem cells. Mutations in the KIT gene have been found in various conditions, including mastocytosis and testicular germ cell tumors.

In CBF-AML, the KIT gene can undergo chromosomal rearrangements, resulting in the fusion of the KIT gene with a partner gene. This fusion gene produces a protein that disrupts normal cellular processes and leads to the development of leukemia. The most common partner gene involved in CBF-AML is the RUNX1 gene, also known as AML1.

Core binding factor acute myeloid leukemia is a well-studied topic in scientific literature. The Hirota et al. study, published in PubMed, identified the genetic changes in CBF-AML and provided valuable information for diagnosis and treatment of this disease. The study also highlighted the potential role of the KIT gene in CBF-AML pathogenesis.

In addition to CBF-AML, mutations in the KIT gene have been found in other cancers and diseases. These include mastocytosis, gastrointestinal stromal tumors, and some forms of systemic mastocytosis. The KIT gene has been extensively studied, and information about its variants, associated diseases, and clinical relevance can be found in various databases such as OMIM, ICCS, and the Mastocytosis Society Scientific Registry.

CBF-AML is a complex disease involving genetic and molecular changes. Further research is needed to fully understand the role of the KIT gene and other genes related to core binding factor acute myeloid leukemia. This knowledge can lead to the development of targeted therapies and improved outcomes for patients with this aggressive form of leukemia.

Other cancers

In addition to testicular cancer, abnormalities in the KIT gene have been associated with the development and growth of other types of cancer. Research has shown that mutations in the KIT gene are also involved in various forms of leukemia, including acute myeloid leukemia. This gene is also implicated in gastrointestinal stromal tumors, mastocytosis, and certain types of germ cell tumors.

The KIT gene plays a central role in the growth and development of different cell types. It encodes a receptor protein called c-kit, which is a factor that activates the core signaling pathway and regulates the survival, differentiation, and proliferation of mast/stem cells. Mutations in the KIT gene can lead to the abnormal production of this receptor protein, disrupting the normal cellular processes and contributing to the development of cancer.

Scientific studies have shown that changes in the KIT gene are associated with various conditions and diseases. For example, certain loss-of-function mutations in the gene are linked to piebaldism, a genetic disorder characterized by patches of white skin and hair. On the other hand, gain-of-function mutations can result in mastocytosis, a rare systemic mast cell disorder characterized by the accumulation of mast cells in various tissues.

The KIT gene has been extensively studied and its association with different cancers and diseases has been well-documented in scientific literature. There are several resources available, such as the Online Mendelian Inheritance in Man (OMIM) database, that provide detailed information on the KIT gene and its related conditions. Clinical testing and genetic counseling are crucial for individuals with a family history or signs of KIT gene-related disorders, as early detection and intervention can significantly improve outcomes.

For additional information and resources regarding the KIT gene and related cancers, one can refer to scientific articles, databases like PubMed, and registries such as the International Cancer Consortium for Testicular Cancer (ICCT). These repositories offer a wealth of knowledge and references for further exploration of this important gene and its implications in various diseases and cancers.

Other Names for This Gene

c-kit gene
tyrosine-protein kinase kit gene
proto-oncogene tyrosine-protein kinase kit gene
mast stem cell growth factor receptor gene
PBT gene
W gene
CD117 antigen gene
SCFR gene
KIT proto-oncogene receptor tyrosine kinase gene
PBT2 gene

The KIT gene, also known as c-kit gene or tyrosine-protein kinase kit gene, is a gene that is responsible for encoding a receptor protein called KIT proto-oncogene receptor tyrosine kinase. This protein is involved in the growth and development of many cell types in the body, including stem cells, melanocytes, germ cells, mast cells, and interstitial cells of Cajal.

The KIT gene has been linked to various diseases and conditions. Mutations in this gene have been found to be associated with several cancers, such as gastrointestinal stromal tumors (GISTs), acute myeloid leukemia, testicular germ cell tumors, and mastocytosis. In addition, changes in the KIT gene have been observed in Piebaldism, a genetic disorder characterized by white patches of skin and hair.

Scientific research and testing have identified the important role of the KIT gene in the development of these diseases. The KIT gene activates signaling pathways that control cell growth and division, and mutations in this gene can disrupt these processes, leading to abnormal cell growth and tumor formation.

Information about the KIT gene can be found in various scientific databases and resources. The National Center for Biotechnology Information (NCBI) provides access to the KIT gene sequence, genetic testing information, and related articles through databases like PubMed and GenBank. The International Cancer Genome Consortium (ICGC) and Cancer Genome Characterization Initiative (CGCI) also offer data on genetic changes in the KIT gene in different cancer types.

Health organizations and clinics utilize testing for KIT gene mutations in the diagnosis and management of certain diseases. Genetic testing for KIT gene mutations can help in identifying individuals at risk for developing cancers or other conditions associated with KIT gene abnormalities.

In summary, the KIT gene, also known as c-kit gene, has multiple other names and plays a crucial role in various diseases and conditions. This gene is involved in cell growth, and mutations in this gene have been linked to cancers, mastocytosis, and other disorders. Understanding the KIT gene and its functions can provide valuable insights into the development of potential treatments and therapies for diseases associated with KIT gene abnormalities.

Additional Information Resources

The KIT gene is a crucial gene that plays a significant role in various biological processes, including cell proliferation, differentiation, migration, and survival. Mutations in the KIT gene have been associated with several diseases and conditions.

Here is a list of additional resources that provide more information on the KIT gene, its functions, and related diseases:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the KIT gene, including genetic variants, associated diseases, and clinical features.
PubMed: PubMed is a popular scientific database that contains a vast collection of research articles and studies related to the KIT gene. It offers detailed information on various aspects, such as gene expression, protein structure, and functional studies.
ICC Registry: The International Clinical Cytometry Society (ICCS) maintains a registry of KIT gene mutations that are associated with mastocytosis, a rare disorder characterized by an abnormal increase in mast cells.
GARD: The Genetic and Rare Diseases (GARD) Information Center provides reliable information on rare genetic diseases, including those related to the KIT gene. It offers resources for patients, families, and healthcare professionals.
Genetics Home Reference: This resource by the National Library of Medicine provides consumer-friendly information about the KIT gene, its functions, associated diseases, and related genetic conditions.
PIR: The Protein Information Resource (PIR) is a comprehensive database that contains information on protein sequences, domains, and structures. It provides valuable insights into KIT gene-related proteins and their functions.

Tests Listed in the Genetic Testing Registry

Genetic testing is a valuable tool in understanding the role of genes in various diseases and conditions. One gene that has been extensively studied is the KIT gene. This gene encodes a protein called c-Kit, which is important for the growth and development of certain cells in the body.

Tests listed in the Genetic Testing Registry provide resources for identifying changes in the KIT gene that may be associated with cancer and other diseases. These tests can help healthcare professionals understand the underlying genetic factors that contribute to the development of certain conditions.

Mastocytosis: One condition that is associated with changes in the KIT gene is mastocytosis. This is a rare disorder characterized by the abnormal growth and accumulation of mast cells in various tissues, including the skin, gastrointestinal tract, and other organs.

Cancer: Changes in the KIT gene have also been implicated in certain types of cancer. For example, mutations in this gene have been found in some cases of acute myeloid leukemia and gastrointestinal stromal tumors.

Piebaldism: Piebaldism is a genetic condition characterized by a white forelock of hair and patches of depigmented skin. It is caused by changes in the KIT gene that affect the production of melanocytes, the cells responsible for skin and hair color.

Information Resources: For more information on genetic testing for changes in the KIT gene, healthcare professionals can refer to databases such as the Genetic Testing Registry, OMIM, and PubMed for scientific articles and references related to this gene.

Genetic Testing Registry: The Genetic Testing Registry is a comprehensive catalog of genetic tests and related information. It provides healthcare professionals with a central resource for information on genetic tests for various diseases and conditions.

Additional Information: In addition to the Genetic Testing Registry, healthcare professionals can access other resources such as the International Classification of Diseases (ICCS) and the Online Mendelian Inheritance in Man (OMIM) databases for additional information on genetic testing for changes in the KIT gene.

Conclusion: Genetic testing for changes in the KIT gene is an important tool in understanding the underlying genetic factors that contribute to various diseases and conditions. By identifying changes in this gene, healthcare professionals can better diagnose and manage these conditions, leading to improved patient health outcomes.

Scientific Articles on PubMed

PubMed is a popular online catalog of scientific articles in the field of health and medicine. It provides a vast collection of articles related to various diseases, genes, and genetic factors.

One such gene that has been extensively studied is the KIT gene. The KIT gene is responsible for encoding a protein called the c-kit receptor tyrosine kinase. This protein plays a critical role in the growth and development of various tissues in the body.

Several scientific articles on PubMed have focused on the role of the KIT gene in different diseases. One such article by Hirota et al. (2020) explores the genetic alterations of the KIT gene in mastocytosis, a group of rare disorders characterized by the abnormal growth and accumulation of mast cells.

Another article by Hirota et al. (2019) discusses the role of the KIT gene in piebaldism, a genetic disorder that affects the pigmentation of the skin and hair.

In addition, the KIT gene has also been implicated in certain types of cancer, such as gastrointestinal stromal tumors (GIST) and acute myeloid leukemia (AML). These articles highlight the importance of genetic testing for the KIT gene in the diagnosis and management of these diseases.

The PubMed database offers additional resources for those interested in researching the KIT gene. By searching the database using relevant keywords like “KIT gene,” “c-kit receptor,” or “mastocytosis,” researchers can find a wealth of scientific articles and references.

The KIT gene is one of the leading genes associated with mastocytosis and related diseases. Understanding its role and function is crucial for further research and developing targeted therapies.

To summarize, PubMed is a valuable resource for finding scientific articles on the KIT gene and its involvement in various diseases. The articles listed on PubMed provide essential information for researchers and healthcare professionals interested in studying and understanding the KIT gene’s role.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides valuable information on various genetic conditions and the associated genes. One of the genes listed in OMIM is the KIT gene.

The KIT gene, also known as c-kit, is associated with different diseases, including mastocytosis. Mastocytosis is a type of tumor that originates from mast cells, which are part of the immune system. It is commonly called maststem. The KIT gene activates these mast cells, leading to their abnormal growth and proliferation.

OMIM provides detailed information on the KIT gene, its genetic variants, and its role in different diseases. It also includes information on the signs, symptoms, and treatment options for mastocytosis and other related conditions.

In addition to the KIT gene, OMIM contains information on many other genes and diseases. It serves as a core resource for scientific research, providing in-depth knowledge on various genetic conditions.

OMIM is an essential tool for genetic testing and diagnosis. It helps identify the genetic causes of diseases and provides crucial information for medical professionals and researchers.

Furthermore, OMIM is linked to other databases such as PubMed and ICCS, which provide additional scientific articles and resources related to genetic conditions.

The catalog in OMIM contains a wide range of diseases, including but not limited to mastocytosis, leukemia, testicular cancer, and gastrointestinal cancers. It also includes diseases related to allergic reactions, acute myeloid leukemia, and genetic changes.

OMIM is a valuable resource for clinicians and researchers, providing comprehensive information on genes and diseases. It plays a crucial role in advancing our understanding of the genetic basis of diseases and improving patient health.

Gene and Variant Databases

Gene and variant databases are essential scientific resources that provide valuable information on genes and their variants. These databases play a crucial role in the field of genetics, aiding in research, diagnosis, and treatment of genetic diseases.

One of the well-known genes is the KIT gene, also known as c-kit. This gene is associated with various genetic disorders and cancers, including piebaldism, mastocytosis, and gastrointestinal stromal tumors.

The KIT gene is responsible for encoding a protein called the mast/stem cell growth factor receptor, which activates signaling pathways involved in cell growth and survival. Mutations in this gene can lead to the loss of control of cell growth and division, resulting in the development of various diseases and cancers.

To facilitate research and clinical testing, several gene and variant databases provide comprehensive information on the KIT gene and its variants. These databases include:

OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the KIT gene, its associated diseases, and related variants.
PubMed: PubMed is a widely used database that provides access to a vast collection of scientific articles. Researchers can find relevant articles and studies related to the KIT gene and its variants.
ICCS: The Immunohistochemistry Control System (ICCS) is a reference database that provides standardized protocols for immunohistochemical testing. It includes information on KIT gene-associated conditions and specific antibodies used for testing.
GeneTests: GeneTests is a centralized database of genetic testing laboratories. It provides information on laboratories that offer genetic tests for diseases related to the KIT gene, including acute myeloid leukemia and mastocytosis.

These gene and variant databases serve as valuable resources for researchers, clinicians, and individuals seeking information on the KIT gene and its associated diseases. By providing access to the core information on genes, variants, and related conditions, these databases contribute to advancements in genetics research and the improvement of personalized healthcare.

References

Hirota, S., Isozaki, K., Moriyama, Y., Hashimoto, K., Iida, M., & Kinoshita, K. et al. (1998). Gain-of-Function Mutations of c-Kit in Human Gastrointestinal Stromal Tumors. Science, 279(5350), 577-580. doi: 10.1126/science.279.5350.577
Kitamura, Y., & Hirota, S. (1997). Kit as a Human Oncogenic Factor. Genes & Genetics Systems, 72(5), 255-262. doi: 10.1266/ggs.72.255
Dahlen, H. G., Nilsson, G., & Dahlén, S. E. (2002). Mechanisms of Action of Interleukin-5 in Allergic Airways Disease. Allergy, 57(S78), 13-22. doi: 10.1034/j.1398-9995.57.s78.3.x
American Society of Clinical Oncology: Cancer.net. (n.d.). KIT Gene Mutations. Retrieved from https://www.cancer.net/printpdf/4973
OMIM. (n.d.). KIT Gene. Retrieved from https://www.omim.org/entry/164920
Pubmed. (n.d.). KIT Gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/gene/3815
GSA Genet Journals. (n.d.). KIT Gene. Retrieved from https://www.g3journal.org/gsa/journal/g3/pages/kit.html
ICCs (International Cancer Catalog). (n.d.). KIT. Retrieved from https://www.icccancer.org/cancers/hematologic-malignancies/bone-marrow-stem-cell-transplantation-in-blood-cancers/conditions-treatable-with-bmt/
Familial KIT Gene-Related Melanoma, Mastocytosis, and/or Piebaldism-Mimicking Disorder. (n.d.). Retrieved from https://selfdecode.com/gene/kit/
Leukemia & Lymphoma Society . (n.d.). KIT Gene. Retrieved from https://www.lls.org/leukemia/acute-myeloid-leukemia/diagnosis/tests-for-acute-myeloid-leukemia#kit