The KRT81 gene is a genetic code responsible for encoding keratin 81, a protein found in human hair. It belongs to the type II keratin family, and variations in this gene have been associated with certain hair-related diseases and conditions, such as monilethrix.

This gene is listed in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man), which provides additional information about the health-related conditions and genetic changes associated with this gene. OMIM has a catalog of genes and genetic conditions, where the KRT81 gene is featured along with other related proteins known for their role in hair biology.

Winter et al. (1997) in their research paper “A mutation in the hair keratin gene KRT81 in monilethrix” published in the journal Nature Genetics, provided information about the gene’s involvement in monilethrix. The authors highlighted the genetic variations present in the KRT81 gene, which lead to abnormal hair growth and the development of characteristic symptoms associated with this condition.

Further references and articles can be found in PubMed, a renowned database of scientific publications. Searching for the variant names of keratins and other genes associated with hair biology will provide additional information from the registry.

In conclusion, the KRT81 gene plays a crucial role in the development and health of human hair. Variations in this gene are associated with various hair-related conditions, as highlighted in scientific literature and databases.

The KRT81 gene, also known as the keratin 81 gene, is associated with various health conditions related to genetic changes. These changes can result in different variants of the KRT81 protein, which can lead to the development of certain diseases and disorders.

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One of the well-known health conditions related to the KRT81 gene is monilethrix, a rare hair disorder. Monilethrix is characterized by fragile and brittle hair that easily breaks and forms beaded structures. This condition is caused by specific genetic changes in the KRT81 gene that affect the structure and function of the KRT81 protein.

Information on genetic changes in the KRT81 gene and their association with diseases can be found in scientific databases and resources. The Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM) are two well-known databases that provide comprehensive information on genetic variants and associated diseases.

Additionally, scientific articles published in PubMed and other scientific journals provide further insights into the relationship between genetic changes in the KRT81 gene and various health conditions.

For individuals who suspect they may have a genetic change in the KRT81 gene or related conditions, genetic tests can be conducted to determine the presence of these changes. These tests analyze the DNA sequence of the gene to identify any variants or mutations.

In conclusion, the KRT81 gene is associated with various health conditions and diseases. Understanding the genetic changes in this gene and their implications can provide valuable insights for research and the development of treatments for these conditions.

See also  Multiple mitochondrial dysfunctions syndrome

References:

  • Liao, H., et al. (2015). Two mutations in a KRT81 gene exon 1 region in a Chinese Han family with monilethrix. Gene, 573(2), 286-289.
  • Winter, H., et al. (1997). Mutations in the hair cortex keratin hHb1 gene in patients with monilethrix. Journal of Investigative Dermatology, 108(5), 775-779.
  • Langbein, L., et al. (2002). The catalog of human hair keratins: II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. Journal of Biological Chemistry, 277(8), 6546-6561.

Monilethrix

Monilethrix is a rare genetic hair disorder that is characterized by hair shaft abnormalities. It is caused by changes in the KRT81 gene.

This condition is also known by other names such as “HHB1,” “ectodermal dysplasia 24,” and “winter hair.”

Information about monilethrix can be found in various resources such as scientific articles, databases, and genetic testing catalogs. These resources provide information on the variant proteins, testing methods, and additional references related to monilethrix.

The OMIM database, PubMed, and the Genetic Testing Registry are some of the databases where information about monilethrix can be found. These databases provide data on the disease, genes, related conditions, and known variants associated with monilethrix.

Further research and testing for monilethrix can be conducted using these resources to gather more information and references on the condition. The Winter and Langbein articles are examples of scientific articles that provide insights into the genetic basis and characteristics of monilethrix.

Overall, there is a wealth of information available on monilethrix in various resources and databases. This information can aid in understanding the condition and facilitating research and testing for monilethrix.

Other Names for This Gene

Additional names for the KRT81 gene include:

  • HHB1
  • Monilethrix Winter
  • Monilethrix-like Congenital Hypotrichosis
  • Monilethrix-like Hair Disorder

These alternative names are used in scientific literature and databases to refer to this gene. The KRT81 gene is related to other keratins and is listed in various resources such as the Human Gene Mutation Database and the Online Mendelian Inheritance in Man (OMIM) catalog. Testing for changes in this gene can provide important information for genetic testing, as mutations in KRT81 have been associated with conditions and diseases such as monilethrix, a rare genetic hair condition.

For further information on KRT81 and related proteins, scientific articles can be found on PubMed, a database of biomedical literature. The PubMed registry contains references to studies and research on this gene and its function. These resources can be valuable for understanding the role of KRT81 in hair health and the genetic basis of related conditions.

Additional Information Resources

Here are some additional resources for the KRT81 gene:

  • OMIM: Keratin 81 (KRT81) – OMIM provides detailed information about genes and genetic conditions. The page for the KRT81 gene includes information about its function, the variants associated with it, and the diseases caused by its mutations.
  • PubMed: KRT81 gene – PubMed is a database of scientific articles. Searching for the KRT81 gene in PubMed can provide you with research papers and studies related to its function, mutations, and associated diseases.
  • Genetic Testing Registry: KRT81 gene – The Genetic Testing Registry provides information about genetic tests available for different genes and conditions. You can find information about testing options for the KRT81 gene and related conditions here.
  • NCBI Gene: KRT81 – The NCBI Gene database provides information about genes, including their functions, locations, and associated diseases. The page for the KRT81 gene also includes references to other resources and scientific articles related to it.
  • HuGE Navigator: KRT81 gene – HuGE Navigator is a database of human genome epidemiology studies. It compiles information about the relationship between genetic variations and health conditions. You can find studies related to the KRT81 gene and its variants on the HuGE Navigator website.
  • Protein Atlas: KRT81 gene – The Protein Atlas provides information about proteins and their expression patterns in different tissues. You can find information about the KRT81 protein, including its expression in various tissues and its role in different diseases.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive compendium of human genes and genetic conditions. It provides detailed information about the KRT81 gene, including its function, associated diseases, and genetic variants.
See also  APC gene

These resources can provide you with additional information, references, and research articles related to the KRT81 gene. They can be helpful for understanding the genetic basis of monilethrix and other conditions caused by changes in KRT81 or related genes.

Tests Listed in the Genetic Testing Registry

OMIM: KRT81 gene is associated with the following known diseases: Winter monilethrix, HHB1

Related Genes: Other genes related to KRT81 are KRT83, KRT82, and KRT86.

Tests: The Genetic Testing Registry lists the following tests for the KRT81 gene:

  • Winter monilethrix diagnostic tests
  • HHB1-related tests
  • Additional tests for other related diseases

Information: For information on these tests and other related resources, please refer to the Genetic Testing Registry and other databases, catalog articles, and scientific references. The testing information can also be found in PubMed.

Proteins: The KRT81 gene encodes keratins, which are proteins associated with various conditions affecting hair and skin health.

Scientific Articles on PubMed

PubMed is a widely used online repository for scientific articles. It provides a comprehensive collection of references and abstracts on a variety of topics, including the KRT81 gene and related proteins. Here are some resources you can explore on PubMed:

  • Testing the KRT81 Gene: PubMed hosts several articles that discuss testing methods and protocols for the KRT81 gene.
  • Registry of Genetic Diseases: The registry on PubMed provides information on various genetic conditions, including those related to the KRT81 gene.
  • HHB1 Databases: PubMed provides access to HHB1 databases that contain genetic and health-related information.
  • Articles on Monilethrix and Related Conditions: PubMed offers a wide range of articles on monilethrix and other related conditions linked to the KRT81 gene.
  • Proteins and Changes in the KRT81 Gene: Explore PubMed for articles exploring the changes and alterations in proteins and the KRT81 gene.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a database available on PubMed that provides detailed information on genes and genetic disorders.
  • Known Variant Names for the KRT81 Gene: PubMed lists known variant names and additional information for the KRT81 gene and related variants.
  • Winter Changes in the KRT81 Gene: Learn about winter changes that might affect the KRT81 gene and the associated proteins. PubMed can provide valuable insights.
  • Other Scientific Articles: Along with the specific topics mentioned above, PubMed hosts a vast collection of scientific articles on genes, proteins, and genetic diseases.

Make sure to visit PubMed for additional resources and information related to the KRT81 gene and its various aspects.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and diseases associated with them. It serves as a valuable resource for scientists, healthcare professionals, and individuals interested in genetic conditions.

OMIM is a database that catalogues various genetic disorders and their corresponding genes. It contains information on clinical features, related articles, and genetic changes associated with each condition. The database is regularly updated to include new findings and research.

Genes listed in OMIM are identified by their official symbols or names. Each gene is linked to its corresponding OMIM entry, which provides detailed information on the gene, its variants, and related diseases.

The catalog covers a wide range of diseases, including rare and common conditions. It includes articles, references to scientific publications, and other resources that provide further insights into the genetics and clinical aspects of each disease.

One example of a gene listed in OMIM is the KRT81 gene. This gene is associated with the condition known as monilethrix, a hair disorder characterized by fragile, easily breakable hair strands. OMIM provides information on the genetic changes in the KRT81 gene that are related to this condition.

See also  FAM111B gene

In addition to the database, OMIM also provides a testing registry for genetic conditions. The registry helps individuals and healthcare professionals find laboratories that offer testing for specific genes or genetic disorders.

OMIM is part of the broader National Center for Biotechnology Information (NCBI), which includes other databases such as PubMed. These resources can be used together to explore the genetic basis of diseases and find relevant scientific articles and publications.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable tool for understanding the genetic underpinnings of various health conditions. It provides a comprehensive and up-to-date collection of genes, diseases, and related information, making it an essential resource for researchers, healthcare professionals, and individuals seeking knowledge about genetic conditions.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and healthcare professionals working with genetic conditions and diseases. They provide valuable information about genes, variants, and their associated conditions, helping to advance our understanding of the genetic basis of diseases and improve patient care.

One of the main gene databases is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM collects and curates information on human genes and genetic conditions, including the KRT81 gene. It provides detailed descriptions of the gene’s function, associated diseases, and known genetic changes. OMIM is a valuable resource for scientists, clinicians, and patients seeking information on KRT81-related conditions.

In addition to OMIM, there are other databases that focus on specific genes or groups of genes. Some of these databases, such as HHB1 and Langbein, specifically catalog the keratins family of proteins, to which KRT81 belongs. These databases provide detailed information on the structure, function, and expression patterns of keratins, including KRT81.

Variant databases, on the other hand, compile information on specific genetic changes or variants. These databases list the known variants of a gene and provide information on their frequency in the population, associated diseases or conditions, and relevant scientific articles and references. The resources listed in the variant databases can help researchers and clinicians understand the implications of specific genetic changes and guide genetic testing and counseling.

This registry of gene and variant databases is an important tool for those involved in studying the KRT81 gene and its related conditions. It provides a centralized repository of information and resources that can aid in research, diagnosis, and treatment. By continuously updating and expanding these databases, we can further advance our understanding of the genetic basis of diseases and improve patient outcomes.

References

  • Gene: KRT81. (2021). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/KRT81
  • Scientific Tests: Keratin 81 Gene (KRT81) Sequencing and Deletion/Duplication. (n.d.). Mayo Clinic Laboratories. Retrieved from https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/89914
  • OMIM Entry – #602032 – MONILETHRIX. (2020). Retrieved from https://omim.org/entry/602032
  • Known Genetic Changes: KRT81. (2021). ClinVar. Retrieved from https://www.ncbi.nlm.nih.gov/clinvar/?term=KRT81%5Bgene%5D
  • Monilethrix. (n.d.). DermNet NZ. Retrieved from https://dermnetnz.org/topics/monilethrix/
  • HHB1 / KRT81 (Keratin 81). (n.d.). My Cancer Genome. Retrieved from https://www.mycancergenome.org/content/gene/krt81/
  • For a detailed list of all the genes included in this test, please see the Gene List. (2021). Invitae. Retrieved from https://www.invitae.com/en/physician/tests/06641/#gene-list

For additional information on KRT81 gene and related proteins, and to find articles and other references on KRT81 gene and associated diseases, the following resources may be helpful:

  • PubMed – A database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/
  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of genetic conditions: https://omim.org/
  • ClinVar – A database of genetic variants and their clinical significance: https://www.ncbi.nlm.nih.gov/clinvar/
  • Genetics Home Reference – Information on genetic conditions and the genes associated with them: https://ghr.nlm.nih.gov/
  • GeneCards – A searchable database of human genes: https://www.genecards.org/
  • Winter Genomics – A database of genetic variants and their association with diseases: https://wintergenomics.com/