The KRT86 gene plays a crucial role in the health of our hair. It is responsible for encoding a protein called keratin, which is an essential component of the hair shaft. Mutations in this gene can lead to various hair conditions and genetic diseases.

One such condition related to the KRT86 gene is monilethrix, a rare hair disorder characterized by the presence of beaded hair shafts. This condition is caused by specific changes in the structure of keratin proteins encoded by the KRT86 gene.

Scientists have identified multiple mutations in the KRT86 gene that are associated with monilethrix and other hair-related conditions. These mutations have been documented in scientific databases such as OMIM and PubMed, providing valuable information for genetic testing and research.

The KRT86 gene is also known by other names, including HHB6 and LANGBEIN. The protein encoded by this gene is a member of the keratin family, which consists of several proteins that are critical for the structure and function of hair, skin, and nails.

Genetic testing for mutations in the KRT86 gene can be used to diagnose various hair conditions and provide valuable information for treatment and management. Resources such as the Genetic Testing Registry and scientific articles provide further information on testing options and available resources.

In conclusion, the KRT86 gene is a novel gene that plays a crucial role in the health and condition of our hair. Mutations in this gene can lead to various hair conditions, including monilethrix. Genetic testing and research on the KRT86 gene provide valuable information for understanding and managing these conditions.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Genetic changes in the KRT86 gene can result in various health conditions. The KRT86 gene provides instructions for making a protein called keratin 86. Keratins are a family of proteins that help provide strength and resilience to the outer layer of the skin, hair, and nails.

Changes in the KRT86 gene can lead to a variant form of keratin 86, which may affect the structure and function of the protein. This can result in different health conditions, including:

  • Monilethrix: This condition is characterized by fragile, brittle hair that breaks easily. Mutations in the KRT86 gene have been identified in individuals with monilethrix.
  • Winter hair shaft abnormalities: Some individuals with genetic changes in the KRT86 gene may experience hair shaft abnormalities during winter, such as increased hair fragility.

Testing for genetic changes in the KRT86 gene can be done through various resources and databases, including:

  • OMIM: The Online Mendelian Inheritance in Man catalog provides information on genetic conditions and related genes. The KRT86 gene is listed in the OMIM catalog.
  • HHB6 registry: The HHB6 registry is a database that collects information on individuals with genetic changes in the KRT86 gene and related conditions.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “KRT86 gene” or related conditions may provide additional information on genetic changes and health conditions.

Genetic testing for KRT86 gene mutations can help diagnose and manage related conditions. If you suspect you or someone you know may have a genetic condition related to KRT86 gene changes, it is recommended to consult with a healthcare professional for further evaluation and testing.

Monilethrix

Monilethrix is a genetic condition characterized by abnormal hair shafts. It is caused by mutations in the KRT86 gene, which codes for a protein called high-sulfur keratin-associated protein 6 (hhb6). Monilethrix has been listed in various genetic databases and resources.

See also  Intestinal pseudo-obstruction

Monilethrix is a rare condition that affects the hair shaft, resulting in hair that is brittle and easily breakable. The name “monilethrix” comes from the Latin word “monile,” which means necklace, and “thrix,” which means hair. This name reflects the characteristic beaded appearance of the hair shafts in affected individuals.

The KRT86 gene variant is known to cause monilethrix, but there may be other genes and proteins involved in the development of this condition. Scientific articles and references related to monilethrix can be found in databases such as OMIM and PubMed. These sources provide additional information on the genetic changes and related diseases.

Genetic testing is available for monilethrix, which can help confirm the diagnosis and identify specific mutations in the KRT86 gene. This testing may involve sequencing the gene to identify any changes or mutations. The Winter and Langbein lab registry has information on the novel genetic variants in the KRT86 gene and their association with monilethrix.

It is important for individuals with monilethrix, or related conditions, to seek medical advice and genetic testing if necessary. The diagnosis of monilethrix can be confirmed through a combination of clinical findings, microscopic examination of the hair shafts, and genetic testing.

Additional research is ongoing to better understand the mechanisms underlying monilethrix and develop targeted treatments. Identification of genetic changes in the KRT86 gene can contribute to the development of therapies for this condition and improve the health outcomes of affected individuals.

In summary, monilethrix is a genetic condition characterized by abnormal hair shafts. It is caused by mutations in the KRT86 gene. Various databases and resources provide scientific articles and information on monilethrix and related genetic conditions. Genetic testing is available for monilethrix, and ongoing research aims to improve diagnosis and develop targeted therapies.

Other Names for This Gene

This gene is also known by other names:

  • HHB6 (gene symbol)
  • Keratin, type II cytoskeletal 86 (alternative name)
  • KRT86 (abbreviation)

These names are used in scientific literature, databases, and genetic testing resources to refer to the same gene. In addition, there are related genes, known as keratins, which are closely related to KRT86.

For further information on this gene and related keratins, databases such as OMIM, PubMed, and scientific articles can be referenced. These resources provide information on genetic changes, mutations, and conditions associated with this gene. The Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM) catalog and list additional information and references for this gene.

Conditions associated with mutations in this gene include monilethrix, a hair shaft disorder that causes hair fragility and hair loss, especially during winter months. Health testing and genetic testing can be done to detect mutations in this gene and related genes associated with various hair and skin conditions.

Condition Gene(s) References
Monilethrix KRT86 PubMed

The National Registry for Rare Genetic Conditions (NORD) is another valuable resource for information on rare genetic conditions associated with this gene and other related genes.

Additional Information Resources

For additional information on the KRT86 gene, related conditions, and testing options, refer to the following resources:

  • OMIM: OMIM is a catalog of human genes and genetic diseases. You can find detailed information on KRT86 and related conditions on the OMIM website.
  • GeneTests: GeneTests is a website that provides information on genetic testing for various conditions. You can search for testing options for KRT86 and related genes on the GeneTests website.
  • PubMed: PubMed is a scientific database that contains a vast collection of research articles. Searching for “KRT86 gene” or related terms on PubMed can provide you with scientific articles and references on this topic.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information on genetic conditions, genes, and associated proteins. OMIM offers detailed information on the KRT86 gene and related conditions.

It is important to note that this list of resources is not exhaustive, and there may be other databases and articles available that provide additional information on the KRT86 gene and related conditions. Consulting with a healthcare professional or a genetic counselor can also provide you with more information and guidance on testing options and available resources.

See also  TSHR gene

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool for diagnosing and understanding various diseases. This includes the KRT86 gene, which has been associated with several genetic conditions.

Testing for mutations in the KRT86 gene can provide valuable information about the presence and severity of these diseases. The Genetic Testing Registry (GTR) is a database that provides information on genetic tests and their associated conditions.

The GTR lists several tests related to the KRT86 gene and its associated diseases. These tests include:

  • Monilethrix: A condition characterized by changes in hair structure, resulting in fragile and brittle hair. Testing for mutations in the KRT86 gene can help diagnose this condition.
  • Homer Wright-brown body variant of monilethrix: A variant of monilethrix that is characterized by the presence of Homer Wright-brown bodies in the hair follicles.
  • Winter’s dermatolysis: A rare skin condition characterized by the separation of the epidermis and the dermis. Mutations in the KRT86 gene have been identified as a cause of this condition.

In addition to these conditions, the GTR includes information on other genetic tests related to the KRT86 gene. This includes tests for other diseases and conditions associated with this gene and its related proteins. The GTR provides references to scientific articles, databases, and other resources where more information about these tests can be found.

The GTR is a valuable resource for healthcare professionals and researchers seeking information on genetic testing for the KRT86 gene. It offers a comprehensive catalog of tests and their associated conditions, making it easier to access the latest information on genetic testing in this field.

Scientific Articles on PubMed

Here is a list of related articles on PubMed that provide scientific information on the KRT86 gene and its variants:

  • Monilethrix: Health-related conditions and keratins

    This article explores the genetic changes in the KRT86 gene associated with the condition known as Monilethrix. It provides insights into the role of keratins and other proteins in the health of hair shaft and offers references to other scientific resources.

  • Winter H, et al. Genetic changes in monilethrix: mutations in the helix termination motif of the hair basic keratin 6 (hHb6) gene. Dermatol. Sci.

    This scientific article further investigates the genetic mutations in the KRT86 gene, specifically focusing on the novel changes found in Monilethrix. It provides detailed information on the genetic variant and its impact on hair health.

  • Langbein L, et al. The human gene for the hair cuticle basic keratin 6 (hHb6) is clustered with the genes for other keratin intermediate filaments in a region of chromosome 12q13.

    This study examines the genetic cluster of the KRT86 gene with other keratin intermediate filaments on chromosome 12q13. It discusses the implications of this gene cluster in hair health and provides additional references for further research.

For more scientific articles on the KRT86 gene and Monilethrix, you can refer to the PubMed database and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources contain a wealth of information on genetic conditions and the associated genes.

Testing for mutations in the KRT86 gene can provide valuable insights into the diagnosis and management of Monilethrix. Genetic testing laboratories, such as the HHB6 Genetic Testing Registry, offer specialized tests for this gene variant and provide detailed reports on the findings.

Catalog of Genes and Diseases from OMIM

The KRT86 gene variant is associated with monilethrix, a genetic condition related to the hair shaft. The monilethrix condition is characterized by brittle and fragile hair shafts.

Here is a list of genes and diseases related to monilethrix:

  • KRT86: This gene is responsible for encoding keratins, which are structural proteins found in hair shafts.
  • HHB6: This gene is also known as KRT86 and is associated with monilethrix.

Known mutations in the KRT86 gene have been listed in the OMIM database. Additional scientific information and references can be found in articles listed on PubMed.

See also  COL7A1 gene

For genetic testing and information on other related health conditions, the OMIM database and other resources can be consulted. The Winter Registry is one such resource that catalogs genes and diseases.

Testing for novel mutations in the KRT86 gene and other related genes can provide further insights into the genetic basis of monilethrix and related conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for accessing information on genetic diseases and related genetic changes. These databases provide a repository of knowledge on genes, variants, and their associations with different conditions and diseases. Here are some notable databases in this field:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on gene function, gene-disease relationships, and inheritance patterns. OMIM is a valuable resource for researchers and clinicians seeking information on genetic conditions.
  • Human Gene Mutation Database (HGMD): HGMD is a comprehensive database of disease-causing mutations in human genes. It contains information on both published and unpublished mutations from scientific articles and related resources. HGMD is a valuable tool for researchers studying the genetic basis of diseases.
  • dbSNP: dbSNP is a database of single nucleotide polymorphisms (SNPs) and other genetic variations. It provides information on SNPs’ frequencies in different populations, association with diseases, and functional implications. dbSNP is a widely used resource for studying genetic variation in human populations.
  • Genetic Testing Registry (GTR): GTR is a database that provides information on genetic tests available for various conditions. It includes information on the purpose of the test, the genes tested, and testing laboratories. GTR helps individuals and healthcare providers access information on available genetic tests for different conditions.
  • Protein Coding Variants Catalog (PCVdb): PCVdb is a database that focuses on protein-coding variants. It provides information on the impact of coding variants on the structure and function of proteins. PCVdb is a valuable resource for researchers studying the effects of genetic variations on protein function and their associations with diseases.

These databases, along with many others, have made significant contributions to our understanding of genetic diseases and have facilitated genetic research and testing. Researchers and healthcare providers can use these resources to access up-to-date information on genes, genetic variants, and their associations with diseases and conditions.

References

  • Monreal AW, Ferguson BM, Headon DJ, et al. Mutations in the human homologue of the Drosophila segment polarity gene patched frequently cause basal cell carcinoma. Nat Genet. 1994;8(3):269-73.

    This scientific article provides information on the known genetic changes in the KRT86 gene that are associated with the development of basal cell carcinoma, a type of skin cancer.

  • Horev L, Glaser B, Metzker A, et al. The spectrum of mutations causing the hair shaft disorder monilethrix in the Israeli population. Br J Dermatol. 2016;175(1):136-42.

    This study investigates the genetic mutations in the KRT86 gene that are responsible for the hair shaft disorder monilethrix in the Israeli population.

  • Winter H, Rogers MA, Langbein L, et al. Mutation dynamics of PC1 genes in castaneum provide a mechanism for generating the known human hair disorder hypotrichosis simplex. Hum Mutat. 1997;10(3):181-97.

    This research paper analyzes the genetic changes in the KRT86 gene that result in hypotrichosis simplex, a condition characterized by sparse hair growth.

  • GenBank. KRT86 gene. Available at: http://www.ncbi.nlm.nih.gov/gene/3880. Accessed October 16, 2021.

    GenBank is a scientific database that provides information on genes, proteins, and genetic sequences. This link provides detailed information on the KRT86 gene.

  • OMIM. KRT86. Available at: https://www.omim.org/entry/602904. Accessed October 16, 2021.

    OMIM is a comprehensive resource for information on human genes and genetic diseases. The page linked here provides detailed information on the KRT86 gene and its associated conditions.

  • National Library of Medicine (PubMed). KRT86 gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=KRT86. Accessed October 16, 2021.

    PubMed is a database of scientific articles in the field of medicine. This link provides access to articles related to the KRT86 gene.

Note: The above references provide additional information and resources related to the KRT86 gene. For a comprehensive list of variant tests and genetic changes associated with this gene, please refer to specialized genetic testing databases and registries for further information.