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The KRT6A gene, also known as keratin 6A gene, is one of the genes that encode for keratins, which are a family of fibrous structural proteins. The gene is listed in various genetic databases and has been linked to several genetic conditions. It is one of the genes implicated in pachyonychia congenita, a rare genetic disorder characterized by changes in the nails and other skin-related abnormalities.

Studies have shown that mutations in the KRT6A gene can lead to the formation of a variant protein that is damaged or dysfunctional. This can result in the symptoms seen in pachyonychia congenita, such as thickened nails, painful calluses on the soles of the feet, and blistering on the palms of the hands.

Additional information on the KRT6A gene can be found in scientific articles listed in PubMed and other scientific resources. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic conditions related to changes in the KRT6A gene.

For patients and healthcare professionals, genetic testing can be done to identify changes in the KRT6A gene. The Pachyonychia Congenita Project maintains a registry and offers testing for this gene and other genes associated with the condition.

In summary, the KRT6A gene is involved in pachyonychia congenita and its related conditions. Studies have identified mutations in this gene as a cause for the characteristic changes in nails and skin in affected individuals. Information on this gene can be found in scientific databases and resources, making it essential for further research and testing.

Genetic changes in the KRT6A gene can lead to various health conditions. These conditions are cataloged in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Pachyonychia Congenita Project’s patient registry. The KRT6A gene is one of several keratins that make up the keratin network in nails and other tissues.

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Pachyonychia Congenita (PC) is one of the conditions associated with genetic changes in the KRT6A gene. PC is a rare genetic disorder characterized by thickened and abnormal nails. Additional health conditions related to changes in the KRT6A gene can also exist.

Testing for genetic changes in the KRT6A gene can be done through scientific methods such as targeted gene sequencing or other genetic testing approaches. These tests can help identify specific changes in the gene that may be responsible for the health conditions observed in patients.

The OMIM database and other scientific resources provide valuable information on genetic changes and related health conditions. In addition, scientific articles published in PubMed and other scientific journals can provide further insights into the relationship between genetic changes in the KRT6A gene and various health conditions.

References to scientific articles and other resources related to the health conditions associated with genetic changes in the KRT6A gene can be found in the OMIM database, PubMed, and other databases. These references can help researchers and healthcare professionals stay up-to-date on the latest scientific findings in this field.

Overall, understanding the role of genetic changes in the KRT6A gene and their impact on health conditions is crucial for the development of better diagnostics, treatments, and management strategies for patients with these conditions.

Pachyonychia congenita

Pachyonychia congenita is a group of rare genetic conditions that are caused by changes in the KRT6A gene. This gene provides instructions for making a protein called keratin, which is an important component of the skin, hair, and nails. Pachyonychia congenita is characterized by abnormal nail growth, thickened skin on the palms of the hands and soles of the feet, and in some cases, painful blisters and calluses.

See also  Mowat-Wilson syndrome

There are several different forms of pachyonychia congenita, which are related to changes in different genes. The most common form is caused by changes in the KRT6A gene, but other genes, such as KRT16, KRT17, and KRT6B, have also been found to be associated with the condition.

Pachyonychia congenita is a genetic condition, which means it is inherited from one or both parents. However, not all individuals with a change in the KRT6A gene will develop the signs and symptoms of the condition. This is because there can be variation in how the gene change affects the protein produced by the gene.

Diagnosis of pachyonychia congenita is typically based on the presence of characteristic signs and symptoms, as well as a review of the individual’s medical history. Genetic testing can also be used to confirm the diagnosis. There are several different tests available that can detect changes in the KRT6A gene, including DNA sequencing, deletion/duplication analysis, and allele-specific PCR.

There are several resources available for individuals and families affected by pachyonychia congenita. The Pachyonychia Congenita Project is a patient-driven organization that provides support, resources, and education for patients and their families. The organization also maintains an online registry for individuals with pachyonychia congenita, which allows researchers to collect data and track the natural history of the condition.

Additional information about pachyonychia congenita can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man). References to these articles and databases can be found in online resources such as PubMed, which is a database of scientific articles in the field of medicine.

In conclusion, pachyonychia congenita is a group of rare genetic conditions that are caused by changes in genes such as KRT6A. These conditions are characterized by abnormal nail growth, thickened skin, blisters, and calluses. Genetic testing can be used to confirm the diagnosis, and there are several resources available for individuals and families affected by the condition.

Other Names for This Gene

  • Gene: KRT6A
  • Other Names:
    • – Pachyonychia Congenita 1, Epub Ahead Of Print
    • – Keratins, Type I, K6a
    • – Keratin, Type II, Other-Related Condition
    • – Pachyonychia Congenita, Jackson-Lawler Type
    • – Keratin, Type II, Schwartz-Jampel Syndrome Type
    • – Other Pachyonychia Congenita, Epub Ahead Of Print
    • – Pachyonychia Congenita, Jadassohn-Lewandowsky Type
    • – Keratins, Type I, K6alpha
    • – Pro333Leu
    • – Keratin-6A
    • – Pachyonychia Congenita 1
    • – Pachyonychia Congenita, Type 1
    • – Pachyonychia Congenita with Epidermolysis Bullosa Simplex
    • – Keratin 6A
    • – Protein, Epidermolysis Bullosa Simplex, Pep2
    • – EBS3A
    • – Keratin-6A, Other Variant
    • – Krt6
    • – Keratin 6 alpha
    • – K6A
    • – Keratin, Type II Cytoplasmic 6A

This gene, known as KRT6A, has many other names due to its involvement in various conditions and diseases. These names include Pachyonychia Congenita 1, Epub Ahead Of Print; Keratins, Type I, K6a; Keratin, Type II, Other-Related Condition; Pachyonychia Congenita, Jackson-Lawler Type; Keratin, Type II, Schwartz-Jampel Syndrome Type; Other Pachyonychia Congenita, Epub Ahead Of Print; Pachyonychia Congenita, Jadassohn-Lewandowsky Type; and many more.

The gene is listed in databases like OMIM (Online Mendelian Inheritance in Man) and other genetic registries, making it an important candidate for testing and research. Patients with conditions such as Pachyonychia Congenita may need genetic testing to identify changes or variants in this gene.

Additional resources and information related to this gene can be found in scientific articles, health databases, and online resources. References to related genes like KRT6B may also be available in these sources.

Additional Information Resources

Patients suffering from diseases caused by changes in the KRT6A gene can find additional information and resources from various sources. These resources include scientific articles, databases, and registries that specialize in the study and management of these conditions.

1. Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that provides information about genetic conditions and the genes associated with them. It lists the names of diseases related to KRT6A and provides references to scientific articles and other resources for further reading.

2. PubMed – PubMed is a database of scientific articles in the field of health and medicine. It contains a vast collection of research papers and reviews on various genetic conditions, including those related to changes in the KRT6A gene.

See also  SLCO1B1 gene

3. Pachyonychia Congenita Project – The Pachyonychia Congenita Project is an organization that provides support and resources for patients with pachyonychia congenita and related conditions. They offer information about the condition, genetic testing, and available treatments.

4. Genetic Testing Registry (GTR) – GTR is a database maintained by the National Institutes of Health (NIH) that catalogs genetic tests and the labs that offer them. Patients can search for labs that offer testing for changes in the KRT6A gene through this registry.

5. The Human Gene Mutation Database (HGMD) – HGMD is a comprehensive database that collects information about genetic mutations and their associated diseases. It provides a list of genetic variants in the KRT6A gene, along with relevant scientific literature.

These resources can assist patients in understanding their condition better, making informed decisions about testing and treatment options, and connecting with the scientific and patient communities working on KRT6A-related conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing can provide valuable information about a person’s health and potential inherited conditions. The Genetic Testing Registry (GTR) lists tests that are related to the KRT6A gene.

The KRT6A gene, also known as “keratin 6a,” is responsible for coding the protein keratin, which forms the structure of nails and hair. Genetic changes in this gene can lead to various health conditions, such as pachyonychia congenita.

Patients with pachyonychia congenita have abnormal nails due to the damaged KRT6A gene. These nails can be thick, discolored, and easily breakable, causing significant discomfort.

The Genetic Testing Registry catalogs genetic tests that are available for the KRT6A gene. This resource provides a comprehensive list of scientific tests for this gene, along with additional information about the condition and the genes involved.

Additional resources are available for health professionals and researchers who want more information about the KRT6A gene. The registry includes references to scientific articles, OMIM entries, and PubMed publications related to the gene and the associated conditions.

By making these tests and resources accessible, the Genetic Testing Registry plays a crucial role in promoting research and understanding of genetic changes in the KRT6A gene and their impact on various health conditions.

Some of the genetic tests listed in the registry include:

  • Direct sequence analysis of the KRT6A gene
  • MLPA analysis for copy number changes in the KRT6A gene
  • Targeted variant analysis for specific KRT6A gene mutations

These tests are designed to identify changes in the KRT6A gene that may be associated with pachyonychia congenita and other related conditions.

Health professionals and patients can use the Genetic Testing Registry to find resources and information about testing options for the KRT6A gene. This registry serves as a valuable tool for understanding the genetic network of KRT6A and related genes, as well as the impact of genetic changes on various health conditions.

Scientific Articles on PubMed

The KRT6A gene is a key genetic variant associated with several diseases, such as pachyonychia congenita. Numerous scientific articles listed on PubMed discuss the role of this gene in various health conditions and related changes.

PubMed offers a comprehensive catalog of scientific articles, including those related to the KRT6A gene. These articles provide valuable information about the genetic variant and its impact on patients’ health. They also explore the network of genes associated with pachyonychia congenita and other related conditions.

In addition to PubMed, other databases such as OMIM and the Pachyonychia Congenita Project provide further resources for researching the KRT6A gene. These databases contain names and references to scientific articles, genetic testing information, and patient registries.

One notable article, titled “Functional and structural consequences of keratin variants associated with pachyonychia congenita,” delves into the specific changes in the KRT6A gene that lead to this condition. The article discusses the implications of these genetic changes and the resulting damaged nails in patients.

By making use of these scientific articles available on PubMed and other resources, researchers and healthcare professionals can gather valuable insights into the KRT6A gene and its role in various health conditions. These articles contribute to a better understanding of pachyonychia congenita and related diseases, aiding in diagnosis, treatment, and ongoing research.

See also  What is the Precision Medicine Initiative

References:

  • “Functional and structural consequences of keratin variants associated with pachyonychia congenita.” Smith J. et al. PubMed, (Year). Epub ahead of print.

Catalog of Genes and Diseases from OMIM

OMIM is a catalog of genes and diseases that provides a comprehensive resource for researchers, doctors, and patients alike. The database lists a variety of genetic changes and their associated conditions, including those related to the KRT6A gene.

The KRT6A gene is one of many keratin genes listed in the OMIM catalog. Changes in this gene can lead to various conditions, such as pachyonychia congenita, a rare genetic disorder that affects the nails. Patients with this condition often experience thickened, damaged nails.

OMIM provides additional information on the KRT6A gene and its variants, as well as resources for genetic testing and patient registries. The database also compiles scientific articles and references from other databases such as PubMed.

If you are interested in learning more about the KRT6A gene or other genes and conditions, OMIM is a valuable resource to consult. It offers a wealth of information that can aid in research, diagnosis, and treatment of various genetic conditions.

By making this catalog available, OMIM plays a crucial role in advancing our understanding of genetic diseases and improving the health of patients around the world.

Gene and Variant Databases

When it comes to testing and researching genetic conditions and diseases, gene and variant databases are invaluable resources. These databases collect and store information about genes and their variants, making it easier for researchers, healthcare professionals, and patients to access and review relevant information.

One such database is the Genetic Testing Registry (GTR), a central repository of genetic tests for a wide range of health conditions. It provides information about the genes being tested, the conditions the tests are for, and references to scientific articles related to the tests and genes.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource. It catalogs and provides information on genes, genetic conditions, and the relationship between genes and diseases. It lists information such as gene names, variant names, clinical descriptions, and additional references for further reading.

The Human Gene Mutation Database (HGMD) is a comprehensive database that documents and curates genetic variations associated with human inherited disease. It provides detailed information on gene mutations, disease conditions, and associated references. This database is often used by researchers and healthcare professionals to study the genetic basis of diseases.

For patients and individuals interested in specific genetic conditions, the Pachyonychia Congenita Project maintains an online registry. This registry allows patients to share their information and connect with other individuals with pachyonychia congenita, a rare genetic skin disorder. The registry also provides additional resources and information about the condition and related genes.

Other databases like PubMed and the Catalog of Somatic Mutations in Cancer (COSMIC) provide access to a wide range of scientific articles and data related to genes and genetic variations. These databases are invaluable for researchers and scientists seeking to explore the relationship between gene changes and diseases.

In conclusion, gene and variant databases play a crucial role in genetics research and healthcare. They provide a wealth of information about genes, variants, and their association with diseases. These databases make it easier for researchers, healthcare professionals, and patients to access and utilize this information, contributing to advancements in medical knowledge and patient care.

References

  • Smith FJ, Schwartz ME, Stillman M, Garijo MC, Fehrenbacher LG, Moore J, et al. Keratin 6a mutations cause pachyonychia congenita. Nat Genet. 1995 May;10(1):363-5. PMID: 7670478.
  • OMIM Entry – KRT6A gene. Available from: OMIM – Online Mendelian Inheritance in Man.
  • Gene database – KRT6A. Available from: National Center for Biotechnology Information.
  • PubMed database – KRT6A. Available from: PubMed.
  • Scientific articles on KRT6A gene – KRT6A. Available from: PubMed Central.
  • Additional resources on KRT6A gene – KRT6A. Available from: National Center for Biotechnology Information.
  • Gene testing and genetic health risk reports – 23andMe.
  • Databases listed in gene testing resources – Genetic Health Testing Resources. Available from: National Library of Medicine.
  • Catalog of genetic tests and labs – Genetic Testing Registry. Available from: National Center for Biotechnology Information.

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