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The KDM6A gene, also known as UTX, is a gene that plays a crucial role in regulating gene expression and is involved in various important cellular processes. It is classified as a histone demethylase enzyme and is ubiquitously expressed in the body. This gene is listed in various scientific databases and resources, including PubMed, OMIM, and the Genetests registry.

Mutations or changes in the KDM6A gene have been associated with a variety of genetic conditions, including Kabuki syndrome and some types of cancer. Defects in this gene can lead to abnormalities in the regulation of gene expression and can contribute to the development of certain diseases. Testing for KDM6A gene mutations or changes may be done in certain cases to provide additional information about an individual’s health.

Research has shown that alterations in the KDM6A gene can be found in both cancer and non-cancerous conditions. In cancer, changes in this gene are often associated with bladder cancer and various other types of cancers. The identification of KDM6A gene mutations through genetic testing can help in the diagnosis and management of these cancers.

For more information on the KDM6A gene, its related conditions, and available testing, references to scientific articles, cancer registries, and genetic testing resources can be consulted.

Genetic changes in the KDM6A gene have been associated with several health conditions. Here is a list of some of the conditions related to changes in this gene:

  • Kabuki syndrome: Changes in the KDM6A gene can cause Kabuki syndrome, a rare genetic disorder characterized by distinctive facial features, developmental delay, and other physical and intellectual disabilities. Kabuki syndrome is an X-linked condition, meaning it primarily affects males.
  • Bladder cancer: Studies have found that alterations in the KDM6A gene can contribute to the development of bladder cancer. KDM6A encodes a demethylase enzyme that helps regulate gene expression by modifying histones, which are proteins associated with DNA in the nucleus of cells.
  • Other cancers: Genetic changes in the KDM6A gene have also been found in other types of cancers, including lung cancer, prostate cancer, and head and neck squamous cell carcinoma. These changes can disrupt normal gene regulation and contribute to the development and progression of these cancers.
  • Additional diseases: Besides Kabuki syndrome and cancer, alterations in the KDM6A gene have been implicated in other diseases as well. The Online Mendelian Inheritance in Man (OMIM) database provides information on various disorders associated with changes in this gene, including intellectual disability, cardiovascular abnormalities, and skeletal anomalies.

To diagnose genetic changes in the KDM6A gene, different tests can be conducted. These tests may include DNA sequencing to identify specific variants or changes in the gene. Genetic testing for KDM6A-related conditions may be available through commercial laboratories, research centers, or specialized clinics.

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For more information on genetic changes in the KDM6A gene and related health conditions, you can refer to scientific articles, online databases, and other resources. The PubMed database is a central repository of scientific literature, and searching for “KDM6A” or “KDM6A gene” will provide you with relevant research articles and references on this topic.

Other resources like the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog can provide comprehensive information on KDM6A-related conditions, including genetic testing availability, treatment options, and support resources.

Understanding the role of KDM6A and other genes in the development of various health conditions can contribute to better diagnosis, treatment, and management of these diseases.

Kabuki syndrome

Kabuki syndrome, also known as KDM6A gene-related disorders, is a rare genetic condition that affects various parts of the body. It is named after the characteristic facial features that resemble the white make-up worn by actors of Kabuki, a traditional Japanese form of theater.

The KDM6A gene is located on the X chromosome, making Kabuki syndrome an X-linked disorder. Mutations or changes in this gene can lead to the development of Kabuki syndrome. The KDM6A gene is ubiquitously expressed in the body and plays a role in the regulation of histones, which are proteins that help package DNA in the nucleus.

Individuals with Kabuki syndrome may have a range of physical and developmental characteristics, including distinctive facial features, intellectual disabilities, growth delays, and musculoskeletal issues. They may also experience health problems such as heart defects, hearing loss, and kidney malformations.

Diagnosis of Kabuki syndrome often involves genetic testing to identify specific changes or variants in the KDM6A gene. These tests may be performed using blood samples or other biological materials. As Kabuki syndrome shares some features with other genetic conditions, additional testing and examinations may also be required to rule out other conditions.

Resources for information on Kabuki syndrome and KDM6A gene-related disorders can be found in various databases and scientific publications. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic conditions, including Kabuki syndrome. The Genetic and Rare Diseases Information Center (GARD) offers resources for patients and families affected by rare diseases.

The Kabuki Syndrome Network and the Kabuki Syndrome Registry are organizations that provide support and resources for individuals with Kabuki syndrome and their families. They also contribute to research and raise awareness about the condition.

Research on Kabuki syndrome and the KDM6A gene is ongoing, with scientific articles and studies published in journals such as Genet. Med and PubMed. Understanding the role of KDM6A and related genes in the development of Kabuki syndrome may contribute to advances in diagnosis, treatment, and support for affected individuals.

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It is important to note that Kabuki syndrome does not directly cause cancer. However, individuals with Kabuki syndrome may have an increased risk of developing certain cancers, such as bladder cancer. Regular monitoring and appropriate screening tests may be necessary to detect and address any potential health issues.

For additional information and references on Kabuki syndrome, its genetic causes, and related conditions, you can consult resources such as OMIM, scientific articles, genetic testing databases, and the Kabuki Syndrome Network and Registry.

Bladder cancer

Bladder cancer is a type of cancer that affects the cells lining the bladder. It can be caused by a variety of factors, including genetic changes, exposure to certain chemicals, and smoking. One gene that has been associated with bladder cancer is the KDM6A gene.

The KDM6A gene is responsible for producing enzymes called demethylases, which help to regulate genetic changes in the body. Changes in this gene can lead to the development of bladder cancer and other related conditions.

The KDM6A gene is located on the X chromosome and is commonly referred to as an X-linked gene. Mutations or changes in this gene can be inherited from one or both parents, or they can occur spontaneously.

There are many resources available for those interested in learning more about bladder cancer and the KDM6A gene. The Kabuki Syndrome Network and the Bladder Cancer Advocacy Network provide information and support for individuals and families affected by bladder cancer.

In addition, there are various databases and registries that collect information on genes, genetic testing, and diseases. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are two such resources that provide access to scientific articles and references related to bladder cancer, the KDM6A gene, and other related topics.

Genetic testing can be done to identify changes or variants in the KDM6A gene that may increase the risk of developing bladder cancer. These tests are typically ordered by healthcare providers and can help inform treatment decisions and recommendations for monitoring and managing one’s health.

It is important to note that changes in the KDM6A gene are not the sole cause of bladder cancer. There are many other genetic and environmental factors that contribute to the development of this type of cancer.

In conclusion, the KDM6A gene plays a central role in regulating genetic changes related to bladder cancer. Understanding the function and changes in this gene can lead to additional insights into the development and treatment of bladder cancer. By utilizing available resources and genetic tests, individuals and healthcare providers can better understand the role of the KDM6A gene in relation to bladder cancer and make informed decisions regarding their health.

Cancers

The KDM6A gene, also known as Lysine Demethylase 6A, is involved in various types of cancers. The information on these cancers is collected in registries and databases which may have different names and centralize the genetic information on cancers.

There are different genetic changes associated with the KDM6A gene in various cancers. One example is bladder cancer, where genetic changes in the KDM6A gene have been observed.

Scientific articles and resources provide information on the genes and genetic changes associated with cancers. One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which lists the KDM6A gene as an X-linked demethylase. This catalog also provides information on other related genes and their roles in diseases, including cancer.

Tests for genetic changes in the KDM6A gene and other related genes can be performed, which can provide important information for cancer diagnosis and treatment. These tests may lead to the identification of specific genetic changes in the KDM6A gene that are associated with certain cancers.

Many cancers are regulated by genes involved in the modification of histones. Histones are proteins that help package DNA in the cell nucleus. By regulating the genes involved in histone modifications, such as KDM6A, these cancers can be affected.

There is a syndrome called Kabuki syndrome that is associated with changes in the KDM6A gene. This syndrome is characterized by various physical and developmental abnormalities, including an increased risk of certain cancers.

References to scientific articles and reports on the role of the KDM6A gene in cancers can be found in databases such as PubMed. These articles provide valuable information on the genetic changes and mechanisms involved in cancer development.

In summary, the KDM6A gene and its variant changes are associated with various cancers. Information on these cancers can be found in registries, databases, and scientific articles. Testing for genetic changes in the KDM6A gene can provide important information for cancer diagnosis and treatment. Further research is needed to fully understand the role of the KDM6A gene in cancer development.

Other Names for This Gene

  • Kabuki syndrome 2
  • DKFZp781D22186
  • HIST1H3A
  • KMT8C
  • SMAP44
  • FBL7
  • UTX
  • zinc finger, SWIM-type containing 6

The KDM6A gene, also known as Kabuki syndrome 2, has various other names in different scientific resources and databases. Here is a list of some of the alternative names for this gene:

  • Kabuki syndrome 2: This gene is associated with Kabuki syndrome, a rare genetic disorder characterized by distinct facial features, intellectual disability, and other physical abnormalities.
  • DKFZp781D22186: This is a reference identifier for the gene in the DFKZ genomic database.
  • HIST1H3A: This gene is related to histones, which are proteins that help regulate gene expression and DNA packaging.
  • KMT8C: This is another name for the gene, representing its association with a specific group of enzymes called lysine demethylases.
  • SMAP44: This is a name given to the gene based on its sequence similarity to another gene, but its exact function is still being studied.
  • FBL7: This gene is associated with a specific form of bladder cancer called flat bladder cancer.
  • UTX: This is an abbreviation for ubiquitously transcribed X chromosome tetratricopeptide repeat protein, which refers to a specific domain found in the KDM6A gene.
  • Zinc finger, SWIM-type containing 6: This gene contains a specific type of protein domain called a zinc finger SWIM domain.
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These alternative names are used in different contexts and have been mentioned in various articles, scientific publications, genetic databases, and resources related to gene testing, diseases, and conditions.

Additional Information Resources

There are several resources available to find additional information about the KDM6A gene, related health conditions, and genetic testing. These resources can provide articles, tests, and scientific references that are focused on KDM6A and its role in various cancers and syndromes.

  • PubMed: A database of scientific articles that can be searched for information about KDM6A and its various functions and associations with diseases and cancers.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes and genetic conditions. It includes information on KDM6A and its associated syndromes.
  • Kabuki Syndrome Registry: This registry collects information about individuals with Kabuki syndrome, a genetic condition often caused by changes in the KDM6A gene. The registry provides additional resources and support for individuals and families affected by this condition.
  • Genetic Testing: Genetic testing laboratories offer tests specifically designed to identify changes in the KDM6A gene. These tests can help diagnose certain conditions and provide information for medical management and treatment decisions.

Additionally, there are other databases and resources available that focus on genes, enzymes, and demethylases. These resources can provide more in-depth information about the specific role of KDM6A in regulating histones and other genes in the body.

It is important to consult these resources and seek medical advice from healthcare professionals when considering genetic testing or when looking for information about specific genetic changes or conditions associated with the KDM6A gene.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing and understanding various conditions. By analyzing an individual’s DNA, these tests can identify changes or variants in specific genes that may be associated with certain diseases or cancers.

The Genetic Testing Registry (GTR) lists various tests that are available for different genes and conditions. One gene of interest in this context is the KDM6A gene. KDM6A is a gene that encodes a histone demethylase enzyme and is found to be associated with various cancers and genetic diseases.

Testing for changes or variants in the KDM6A gene can help identify individuals who may be at a higher risk of developing specific cancers or diseases. This information can be used for early detection, prevention, and personalized treatment options.

Scientific articles and references related to the KDM6A gene and its role in various conditions can be found in databases like PubMed. These resources provide valuable information and insights into the relationship between KDM6A and different cancers, including bladder cancer.

It is worth noting that other genes and variants may also play a role in the development of these conditions. The KDM6A gene is just one example among many. Genetic testing can help identify additional genes and variants that may contribute to the development of cancers and diseases.

Tests for changes or variants in the KDM6A gene can be found in the Genetic Testing Registry, which is a central catalog of genetic tests. This registry provides information on the availability of tests, their associated conditions, and the labs that offer them.

In summary, testing for changes or variants in the KDM6A gene can provide valuable insights into an individual’s risk of developing certain cancers or genetic diseases. The Genetic Testing Registry is a valuable resource for finding specific tests related to this gene and other genes associated with cancer. By using these tests and resources, healthcare providers can better understand and manage the risks posed by these conditions.

Scientific Articles on PubMed

Scientific research on the KDM6A gene, also known as Lysine-specific demethylase 6A, has provided valuable information about its role in various diseases and conditions. The KDM6A gene is an X-linked gene that encodes histone demethylases. Dysfunction or changes in this gene have been found to lead to changes in histones and other related genes, which can contribute to the development of various cancers and other diseases.

Scientific articles available on PubMed provide an extensive list of studies and research papers related to the KDM6A gene. The PubMed database is a central resource for accessing information on genetics, health, and scientific research. It contains references to numerous articles and studies that focus on the KDM6A gene and its implications in different diseases and conditions.

Some of the cancers associated with KDM6A gene changes include bladder cancer and Kabuki syndrome. The role of KDM6A gene in these conditions has been extensively studied, and the findings have provided valuable insights into the genetic factors contributing to the development of these diseases.

Genetic testing for KDM6A gene changes is available, and many laboratories offer tests that can detect variations in this gene. The tests can be helpful in diagnosing various conditions and determining the risk of developing certain cancers. Furthermore, the KDM6A gene is ubiquitously expressed in the body, and understanding its regulatory role can lead to a better understanding of its function in normal physiology and disease development.

Scientific articles on PubMed provide a wealth of information on the KDM6A gene and its role in different diseases. Researchers and healthcare professionals can utilize these resources to stay updated on the latest discoveries and insights related to this gene. Additionally, the Online Mendelian Inheritance in Man (OMIM) and other genetic databases list additional information and resources related to KDM6A and other demethylases.

In conclusion, the KDM6A gene is an important gene involved in cancer development and other diseases. The scientific articles available on PubMed and the information obtained from genetic testing and databases provide valuable insights into the role and implications of KDM6A gene changes. Understanding the functions and variations of this gene can help in better diagnosis and management of various conditions.

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Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and diseases associated with them. It provides valuable information on the genetic basis of various conditions and serves as an important resource for researchers, healthcare professionals, and individuals seeking information about genetic disorders.

Genes play a crucial role in regulating various biological processes in the body. The genes listed in OMIM are those that have been extensively studied and their role in diseases has been established. The database provides information on the function of these genes, the diseases they are related to, and the changes or mutations in these genes that lead to the development of diseases.

One such gene listed in OMIM is KDM6A. KDM6A is a gene that encodes a histone demethylase enzyme. Histone demethylases are enzymes that remove methyl groups from histones, the proteins around which DNA is wrapped. This process plays a central role in regulating gene expression, as the methylation pattern on histones can either activate or repress gene transcription.

Changes or mutations in the KDM6A gene have been associated with various diseases. One notable condition is Kabuki syndrome, an X-linked genetic disorder characterized by distinct facial features, intellectual disability, and skeletal abnormalities. Kabuki syndrome is caused by mutations in the KMT2D or KDM6A genes. The KDM6A mutations in Kabuki syndrome are believed to affect the function of the histone demethylase, leading to aberrant gene expression and the development of the syndrome.

In addition to Kabuki syndrome, alterations in the KDM6A gene have also been implicated in various cancers. The deregulation of histone demethylase activity can impact the expression of genes that are involved in cell growth, differentiation, and tumor suppression. As a result, changes in KDM6A function can contribute to the development and progression of bladder cancer, among other cancers.

OMIM provides a wealth of information on these genetic conditions and genes through its detailed catalog of scientific articles, references, and resources. Healthcare professionals can readily access this database to stay informed about the latest research findings, genetic testing resources, and clinical management recommendations for patients with these diseases.

It is important to note that OMIM is not a diagnostic tool and should not be used as a substitute for professional medical advice. Genetic testing, conducted by qualified healthcare providers, is necessary to confirm the presence of gene mutations and diagnose genetic diseases accurately.

  • OMIM is a comprehensive database cataloging genes and diseases.
  • It provides information on the function of genes and their association with diseases.
  • The KDM6A gene is one of the genes listed in OMIM.
  • Changes in the KDM6A gene can lead to conditions such as Kabuki syndrome and various cancers.
  • OMIM offers a wide range of scientific articles, references, and resources for healthcare professionals.
  • Genetic testing is advised for accurate diagnosis of genetic diseases.
Key points about OMIM:

Gene and Variant Databases

Gene and variant databases are resources that collect and provide information about genes and their associated variants. These databases play a crucial role in genetic research and clinical practice, helping scientists and healthcare professionals better understand the impact of genetic changes on health and diseases.

One of the genes found in these databases is the KDM6A gene. KDM6A encodes for one of the members of the histone demethylases family, which are enzymes that regulate changes in histones. Histones are proteins that help organize and package DNA in the nucleus of cells.

The KDM6A gene is ubiquitously expressed in the body and plays a central role in many cellular processes. Changes in this gene have been linked to various conditions and diseases, including cancer. In fact, alterations in the KDM6A gene have been found in several types of cancers, such as bladder cancer and certain types of kidney cancer.

There are several gene and variant databases available that provide information about the KDM6A gene and its associated variants. Some of the well-known databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM catalogs information about genes and genetic conditions. It provides references to scientific articles and other resources related to genetic diseases.
  • PubMed: PubMed is a database of scientific articles that provides a vast amount of information on various topics, including genetics and genomics. Researchers can search for articles related to the KDM6A gene or specific variants using this database.
  • Kabuki Syndrome Registry: The Kabuki Syndrome Registry is a specialized database that focuses on Kabuki syndrome, a rare genetic disorder caused by mutations in the KDM6A gene. This registry provides valuable information for patients, families, and healthcare professionals.

In addition to these databases, there are also genetic testing resources available for testing changes in the KDM6A gene and other cancer genes. These testing resources can help identify genetic changes that may increase the risk of developing certain cancers or other genetic conditions.

Overall, gene and variant databases are vital tools for researchers, healthcare professionals, and individuals interested in genetic health. They provide a wealth of information about genes, their variants, and their association with diseases, enabling better understanding, diagnosis, and management of genetic conditions.

References

These resources provide information on the KDM6A gene, its role in regulating genes and histones, and the associated conditions such as Kabuki Syndrome. They also contain articles related to cancer and KDM6A mutations, which could contribute to additional diseases and cancer susceptibility. The databases listed, including PubMed and OMIM, are scientific resources that can be used for genetic testing and research purposes. Testing for changes in the KDM6A gene can be crucial for the diagnosis of Kabuki Syndrome and for identifying potential risks for cancer. The Kabuki Syndrome Registry offers a central repository of information and resources for individuals and families affected by Kabuki Syndrome.

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