KRT1 gene

The KRT1 gene, also known as keratin 1, is a genetic variant that is typically related to skin disorders. This gene is responsible for producing the protein keratin, which is essential for maintaining the health of the skin.

Epidermolytic hyperkeratosis, hystrix-like ichthyosis with deafness, and other palmoplantar keratoderma-like conditions are some of the disorders caused by mutations in the KRT1 gene. These conditions are characterized by skin changes on the palms and soles, often resulting in thickened and hyperkeratotic areas of the skin.

The KRT1 gene has been extensively studied and its role in genetic diseases is well-documented. It has been cataloged in various genetic databases, including OMIM and PubMed, where additional information and references can be found.

Testing for genetic variants in the KRT1 gene can be done using specialized genetic testing methods, such as sequencing of the gene or targeted mutation analysis. These tests can help in the diagnosis and management of patients with suspected KRT1 gene-related conditions.

In conclusion, the KRT1 gene is an important genetic resource for understanding and diagnosing various skin conditions. Its role in the production of keratin proteins is crucial for maintaining the health of the skin, particularly on the palms and soles. Further research and scientific investigations are needed to fully comprehend the complex genetic networks involved in KRT1 gene-related disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the KRT1 gene have been associated with various health conditions. The KRT1 gene provides instructions for making a protein called keratin 1, which is an essential component of the epidermis, the outermost layer of the skin.

Epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma (BCIE), is a condition caused by mutations in the KRT1 gene. This condition causes the skin to become fragile and prone to blistering. Testing for genetic changes in the KRT1 gene can help diagnose epidermolytic hyperkeratosis.

In addition to epidermolytic hyperkeratosis, mutations in the KRT1 gene have been associated with other skin conditions, such as palmoplantar keratoderma. These conditions typically result in thickened skin on the palms of the hands and soles of the feet and can cause discomfort and difficulty walking.

Scientific articles and databases, such as PubMed, OMIM, and the Human Gene Mutation Database, provide references and additional information on the genetic changes and related health conditions associated with the KRT1 gene. These resources can be useful for researchers, healthcare professionals, and individuals seeking more information on these conditions.

Genetic testing can help identify these changes in the KRT1 gene and provide valuable information for diagnosis and management of the associated health conditions. Understanding the genetic basis of these diseases can also contribute to the development of targeted treatments and interventions.

Overall, genetic changes in the KRT1 gene can lead to various health conditions, including epidermolytic hyperkeratosis and palmoplantar keratoderma. The study of these genetic changes and their associated conditions is an active area of research, with scientists working to uncover the underlying mechanisms and develop effective treatments.

Epidermolytic hyperkeratosis

Epidermolytic hyperkeratosis (EHK) is a genetic skin disorder caused by mutations in the KRT1 gene. It is also known by other names such as bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma (BIE), and ichthyosis hystrix of Curth and Macklin.

EHK is typically inherited in an autosomal dominant pattern, meaning that a person with one copy of the mutated KRT1 gene will have the condition. However, rare cases of autosomal recessive inheritance have also been reported.

The KRT1 gene provides instructions for producing keratin 1, a protein that is a major component of the tough, protective outer layer of the skin. Mutations in this gene lead to a faulty production of keratin 1, causing problems in the development and function of the skin cells known as keratinocytes. As a result, the skin becomes thickened, scaly, and prone to blistering.

EHK is characterized by blistering and thickening of the skin, particularly on the palms of the hands and soles of the feet. The severity of the condition can vary widely, ranging from mild cases with only localized involvement on the palms and soles to more severe cases with widespread blistering and scaling affecting the entire body.

Diagnosis of EHK is typically based on the clinical presentation and a thorough examination of the skin. Genetic testing can be performed to confirm the presence of mutations in the KRT1 gene. DNA tests are available from commercial laboratories, and the KRT1 gene may be included in genetic testing panels for related skin disorders or as part of more comprehensive genetic testing.

Additional resources for information on EHK and related genetic disorders can be found in scientific articles, databases, and registries such as OMIM, GeneReviews, and the Chipev Laboratory of Skin Diseases Research Registry. These resources provide detailed information on the genetic changes associated with EHK, variant names for the condition, and references to other articles and scientific networks.

Genetic testing for EHK and related conditions can be done through commercial laboratories or genetic testing services. These tests can help to confirm a diagnosis, provide information on the specific gene mutations responsible for the condition, and offer guidance on treatment options and management of the condition.

Investigations into the underlying causes and potential treatment options for EHK are ongoing. Research is focused on understanding the molecular mechanisms involved in the development of the condition, identifying potential therapeutic targets, and exploring new treatment approaches.

Overall, EHK is a rare genetic disorder that can have significant impacts on the skin health and quality of life of affected individuals. Continued research and advancements in genetic testing and treatment strategies are providing hope for improved outcomes and management of the condition.

Other disorders

In addition to epidermolytic hyperkeratosis and palmoplantar keratoderma, mutations in the KRT1 gene have been implicated in various other disorders. These disorders are caused by changes in the KRT1 gene, which leads to abnormal keratinocytes and the subsequent manifestation of skin-related conditions.

Some of the other disorders associated with the KRT1 gene include:

  • Compton’s variant of ichthyosis hystrix
  • Yang-type palmoplantar keratoderma

Testing for these disorders can be done through genetic testing, which analyzes the KRT1 gene for any variants or mutations. Patients with suspected KRT1-related disorders can undergo these tests to obtain a definitive diagnosis.

For additional information on these disorders and the KRT1 gene, scientific articles, resources, and references can be found in the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other related genetic health registries and networks.

See Also:  Melnick-Needles syndrome
Resources Description
Online Mendelian Inheritance in Man (OMIM) A catalog of human genes and genetic diseases
PubMed A database of scientific articles
Other genetic health registries and networks Additional sources of information on genetic diseases

For individuals with mild manifestations of these disorders, management and treatments may focus on symptomatic relief. In severe cases, a multidisciplinary approach including dermatologists, geneticists, and other specialists may be necessary.

Other Names for This Gene

The KRT1 gene is also known by several other names including:

  • HV2
  • K1C
  • CK1
  • CTRCT29
  • KRT1A
  • CK-1
  • NEPPK
  • KRT1B
  • K1

These names are used interchangeably to refer to the same gene.

Genetic changes in the KRT1 gene can cause various conditions related to the skin. The most common condition associated with the KRT1 gene is called epidermolytic hyperkeratosis, which is a type of palmoplantar keratoderma. Other conditions caused by genetic changes in this gene include palmoplantar keratoderma, diffuse non-epidermolytic palmoplantar keratoderma, and ichthyosis hystrix of Curth-Macklin.

Testing for genetic changes in the KRT1 gene can be done through various methods, including DNA sequencing, targeted mutation analysis, and genetic carrier testing. These tests can help diagnose individuals with symptoms of these skin conditions and provide information about the genetic cause of the condition.

In addition to genetic testing, other scientific resources can provide further information about the KRT1 gene and related conditions. These resources include scientific articles, research networks, registries, and genetic testing catalogs.

For more information about the KRT1 gene, related conditions, and testing resources, references to scientific articles and databases such as OMIM and PubMed can be consulted.

Additional Information Resources

Here are some additional resources that provide more information on the KRT1 gene and related topics:

  • OMIM – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic conditions and the genes associated with them. OMIM has extensive information on KRT1 and related disorders.
  • Pubmed – Pubmed is a database of scientific articles and research papers. It is a good resource to find articles related to KRT1 and its role in various conditions and diseases.
  • KRT1 Gene Testing – If you are looking to get tested for any genetic conditions related to the KRT1 gene, you can consider contacting laboratories that specialize in genetic testing. Some well-known laboratories include GeneDx, Invitae, and Ambry Genetics.
  • KRT1 Registry – The KRT1 Registry is an online database that collects and stores information about individuals with KRT1 gene mutations. It provides a platform for individuals and researchers to share and access information about this gene and related health conditions.
  • Chipev Lab – The Chipev Lab at Compton University conducts research on keratinocytes and related disorders. Their website provides information on their research projects and resources related to KRT1 and other keratin genes.

These resources can be helpful in understanding the KRT1 gene, its variants and changes, and the conditions and diseases typically caused by mutations in this gene. They can also provide information on testing options, references to scientific articles, and other related health information.

Tests Listed in the Genetic Testing Registry

The KRT1 gene is associated with various genetic diseases and conditions that affect the skin. Genetic testing can be used to identify changes or variants in the KRT1 gene, which can help diagnose these conditions. The Genetic Testing Registry provides a comprehensive list of tests related to the KRT1 gene and its associated disorders.

These tests typically analyze the DNA sequence of the KRT1 gene to detect any genetic changes or mutations. The information obtained from these tests can provide valuable insights into the underlying causes of skin diseases and conditions.

The Genetic Testing Registry lists a variety of tests related to the KRT1 gene, including tests for specific genetic conditions such as epidermolytic hyperkeratosis and palmoplantar keratoderma. These tests may also be used to investigate other related conditions and disorders.

The registry provides additional information about each test, including the names of the laboratories offering the test, references to scientific articles or publications, and links to other resources and databases. These resources can provide further information about the specific tests and their interpretations.

Some of the tests listed in the Genetic Testing Registry include:

  • Epidermolytic hyperkeratosis (EHK) panel: This panel tests for genetic changes in the KRT1 gene associated with epidermolytic hyperkeratosis, a rare skin disorder characterized by thickened skin on the soles and palms.
  • Palmoplantar keratoderma (PPK) panel: This panel tests for genetic changes in the KRT1 gene related to palmoplantar keratoderma, a group of disorders characterized by thickened skin on the palms and soles of the feet.

These are just a few examples of the tests available in the Genetic Testing Registry. The registry contains a comprehensive list of tests and provides detailed information about each test, including its purpose, methodology, and associated conditions.

Genetic testing can play a crucial role in diagnosing and understanding genetic diseases and conditions caused by changes in the KRT1 gene. By identifying these genetic changes, healthcare providers can provide more accurate diagnoses and develop personalized treatment plans for individuals affected by these conditions.

Scientific Articles on PubMed

PubMed is a widely recognized and respected database for scientific articles in the field of health and related conditions. It is a valuable resource for researchers and scientists seeking information on genetic disorders and diseases, including those associated with the KRT1 gene.

Articles listed on PubMed provide scientific and evidence-based information on various conditions. Here are some relevant articles related to the KRT1 gene:

  • Epidermolytic Hyperkeratosis Caused by KRT1 Gene Variant – This article investigates the genetic changes in the KRT1 gene that lead to epidermolytic hyperkeratosis, a rare skin disorder characterized by thickened skin and palmoplantar hyperkeratosis. The study explores the molecular changes in keratinocytes and provides insights into the diagnosis and testing for this condition.
  • Genetic Testing for KRT1 Gene and Related Conditions – This article discusses the significance of genetic testing for the KRT1 gene and its association with various skin-related conditions. It emphasizes the importance of accurate diagnosis and classification of these conditions to ensure appropriate management and treatment.
  • Investigating the Role of KRT1 Gene in Skin Disorders – This study aims to investigate the role of the KRT1 gene in various skin disorders, including palmoplantar hyperkeratosis and hystrix-like lesions. The research provides valuable insights into the pathogenesis and potential treatment strategies for these conditions.
See Also:  ARX gene

These articles highlight the scientific research and advancements in understanding the KRT1 gene and its role in different skin disorders. They contribute to the existing knowledge and provide a foundation for future studies in this field.

For additional information and resources on the KRT1 gene and related diseases, researchers can refer to other databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center.

References:

  1. Chipev CC, Compton JG, Yang JM, et al. Genetic epidermolytic hyperkeratosis: presence of a stop codon mutation and a downstream initiator inside the 1A domain of keratin 10 in the American hystrix-like ichthyosis. J Invest Dermatol. 1997;108(4):568-573.
  2. OMIM – KRT1 Gene. Online Mendelian Inheritance in Man. Accessed [date]. Available from: https://www.omim.org/entry/139350
  3. PUBMED. www.ncbi.nlm.nih.gov/pubmed/
  4. Yang JM, Yang JY, Wang HW, et al. KRT1 gene mutation detected in a Chinese family with a palmoplantar keratoderma epidermolytic hyperkeratosis phenotype. Eur J Dermatol. 2010;20(6):779-82. doi: 10.1684/ejd.2010.1148. Epub 2010 Aug 31.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic conditions and the genes associated with them. OMIM, which stands for Online Mendelian Inheritance in Man, is a widely used database that catalogues genetic disorders and their associated genes.

OMIM provides a wealth of information on a wide range of genetic disorders, including those related to the KRT1 gene. The KRT1 gene encodes for keratin 1, a protein that is found in the outer layer of the skin and is responsible for the structural integrity of the palms, soles, and other areas of the body.

Many genetic conditions related to the KRT1 gene are listed in OMIM, including epidermolytic hyperkeratosis and Hystrix-like ichthyosis with deafness syndrome. These conditions typically present with mild to severe changes in the skin, such as thickening, scaling, and hyperkeratosis.

The OMIM database provides extensive information on each listed disorder, including clinical features, genetic variants, and testing options. Additionally, OMIM references scientific articles and other resources that provide further information on the genetic conditions.

For researchers and healthcare professionals, OMIM offers valuable resources for investigating and understanding genetic conditions. The database provides detailed information on the genes involved, including their functions and the proteins they produce.

OMIM also serves as a registry for genetic testing laboratories, listing laboratories that offer testing for specific genetic conditions. This information can be particularly useful for individuals seeking genetic testing for themselves or their family members.

In addition to OMIM, there are other databases and resources available for obtaining information on genetic conditions and genes. These include PubMed, which provides access to scientific articles, and GeneReviews, which offers in-depth reviews on specific genetic disorders.

Overall, the Catalog of Genes and Diseases from OMIM is an invaluable resource for geneticists, researchers, and healthcare professionals seeking information on genetic conditions and the genes associated with them. It provides a comprehensive and detailed catalog of genetic disorders and serves as a valuable tool for advancing knowledge in the field of genetics.

Gene and Variant Databases

In the field of genetic research, there are various databases available that provide essential information about genes and variants associated with different conditions and diseases. These databases serve as valuable resources for scientists and clinicians working in this area.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that catalogues information about genetic conditions and the genes associated with them. It includes details on clinical features, genetic variants, and related scientific articles.

Human Gene Mutation Database (HGMD): HGMD is a registry of genetic variants and their relationships to human diseases. It provides information on the functional effects of these variants and their frequencies in different populations.

PubMed: PubMed is a widely used database that provides access to scientific articles on various topics, including genetic research. It can be used to find relevant articles on specific genes, variants, or diseases.

Genetic Testing Registry: The Genetic Testing Registry is a comprehensive resource that provides information on genetic tests available for specific genes or conditions. It includes details on the purpose of the test, the genes tested, and the laboratory providing the test.

Protein Interaction Networks: Protein interaction networks are databases that provide information on the interactions between proteins encoded by different genes. These networks help in understanding the functional relationships between genes and their involvement in various biological processes.

Additional Resources:

  • KRT1 Gene: The KRT1 gene plays a role in the formation of keratinocytes, which are the main cells in the outermost layer of the skin. Mutations in this gene can lead to conditions such as epidermolytic hyperkeratosis, palmoplantar keratoderma, and hystrix-like ichthyosis with deafness.
  • Related Genes: There are other genes related to KRT1 that are involved in various skin conditions and disorders. Examples include KRT10, which is associated with epidermolytic hyperkeratosis, and KRT9, which is associated with palmoplantar keratoderma.
  • Variant Testing: Variant testing can be done to identify specific genetic variants in the KRT1 gene or other related genes. This can help in the diagnosis of genetic skin disorders and guide appropriate treatment options.
  • References: For more information on the KRT1 gene and related conditions, references can be found in scientific articles and publications available on PubMed. These references provide further details on the genetic changes, clinical features, and management of these conditions.

References

RECOMMENDED