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The TCHH gene provides instructions for making a protein called trichohyalin. This protein is found in the innermost layer of the hair follicle, called the cortex. Trichohyalin is involved in the formation of the hair shaft, which gives hair its strength and structure. This gene is located on chromosome 1.

Mutations in the TCHH gene can cause a condition called uncombable hair syndrome. This rare genetic disorder affects the shape and texture of the hair, making it impossible to comb or lay flat. People with uncombable hair syndrome often have hair that stands straight up or has a wiry, straw-like appearance. These changes in hair structure are due to alterations in the trichohyalin protein.

To determine if a person has a mutation in the TCHH gene, genetic testing can be performed. This involves analyzing a sample of DNA from the individual to look for changes in the gene’s instructions. If a mutation is found, it can confirm a diagnosis of uncombable hair syndrome.

References:

1. OMIM. “TRICHOHYALIN; TCHH.” https://omim.org/entry/190300

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2. PubMed. “Uncombable hair syndrome.” https://pubmed.ncbi.nlm.nih.gov/18505553/

Additional resources for information on the TCHH gene and related health conditions can be found on the OMIM and PubMed databases. These databases provide scientific articles, cataloging diseases and genes, as well as information on tests and tests results. This information can be useful for healthcare professionals and individuals seeking more information on uncombable hair syndrome and other conditions related to the TCHH gene.

Genes play a crucial role in various biological processes, and alterations in these genetic sequences can lead to the development of different diseases. This article focuses on the TCHH gene and its association with specific health conditions.

The TCHH gene is responsible for encoding a protein called trichohyalin, which is important for the structural integrity of hair. Mutations or changes in this gene can result in a condition known as uncombable hair syndrome (UHS). Individuals with UHS have hair that is dry, frizzy, and resistant to being combed or styled.

To diagnose UHS or other health conditions related to genetic changes in the TCHH gene, various genetic testing options are available. These tests can identify specific variants or alterations in the gene that may be responsible for the observed symptoms.

Several resources provide information on genetic changes in the TCHH gene and related health conditions. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genetic disorders and associated genes. OMIM offers detailed descriptions of various diseases, including UHS and its genetic basis.

Additional information and scientific references can also be found through PubMed, a database of scientific articles. By searching for specific keywords, such as “TCHH gene” or “uncombable hair syndrome,” researchers can access relevant scientific publications for further understanding.

Moreover, genetic testing companies and registries often offer specific tests targeting the TCHH gene. These tests can detect the presence of genetic variations or mutations in individuals suspected of having UHS or other hair-related conditions.

The results of genetic testing can provide valuable insights into the underlying cause of certain health conditions. They can help in confirming a diagnosis, guiding medical management, and providing information on the risks to close relatives.

In conclusion, alterations in the TCHH gene can lead to various health conditions, primarily related to hair disorders like uncombable hair syndrome. Genetic testing, as well as resources such as OMIM and PubMed, offer important tools for understanding these conditions and their genetic basis.

See also  MT-TK gene

Uncombable hair syndrome

Uncombable hair syndrome, also known as “cheveux incoiffables” or “spun-glass hair,” is a rare genetic condition that affects the hair shaft. Individuals with uncombable hair syndrome have hair that is dry, frizzy, and cannot be combed smooth. The hair appears unruly and stands out from the scalp, giving it a characteristic appearance.

Uncombable hair syndrome is often diagnosed in childhood, and the hair abnormalities are usually apparent from birth or early infancy. The condition can persist into adulthood, although the hair may improve with age. Despite the unruly appearance, the hair is typically not brittle or fragile.

The cause of uncombable hair syndrome is usually related to a variant in the TCHH gene, which is responsible for producing a protein called trichohyalin. Trichohyalin is involved in the formation of the hair shaft and helps maintain its structural integrity. Certain variants in the TCHH gene can disrupt the normal structure of the hair shaft, resulting in the characteristic uncombable hair.

Diagnosis of uncombable hair syndrome can be confirmed through genetic testing. Genetic tests can identify changes or variants in the TCHH gene associated with the condition.

Uncombable hair syndrome is a rare condition, and there is limited information available on related conditions or genes. Additional resources for information on uncombable hair syndrome can be found in online databases and registries, such as OMIM (Online Mendelian Inheritance in Man). These resources provide scientific articles, references, and links to related studies.

References:

Other Names for This Gene

The TCHH gene is also known by several other names:

  • Resources: Additional information about this gene can be found in the following resources:

    • Catalog: A catalog of genetic tests and related information, provided by the National Institutes of Health.
    • Registry: A registry of genetic tests and the conditions for which they are available, provided by the National Institutes of Health.
    • Testing instructions: Instructions for genetic testing for this gene, provided by the National Institutes of Health.

  • Uncombable hair syndrome gene: This gene is associated with a condition called uncombable hair syndrome, which causes hair to be unruly and difficult to comb.

  • Changes in the TCHH gene: Variants or changes in the TCHH gene can lead to various diseases and conditions.

For more scientific information about this gene, you can refer to the following databases and references:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains information on human genes and genetic disorders.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and genetics.

These resources, databases, and references can provide additional information related to the TCHH gene and its role in health and genetic conditions. Additionally, they can help in understanding the testing methods and instructions for this gene.

Additional Information Resources

Here are some additional resources for more information on the TCHH gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the TCHH gene and related diseases. You can find a wealth of scientific articles and genetic information on this gene in OMIM.
  • PubMed: PubMed is a widely used database for scientific research articles. You can search for articles related to the TCHH gene, hair conditions, and genetic testing on PubMed.
  • Diseases associated with TCHH: There are several hair conditions and syndromes associated with changes in the TCHH gene. For more information on these conditions, you can refer to the scientific literature and databases.
  • Genetic testing: Genetic testing can be done to identify changes in the TCHH gene that may cause hair conditions. If you are interested in getting tested, consult with a healthcare professional or a genetic testing laboratory.
  • Registry and support groups: There may be registries and support groups available for individuals with hair conditions related to changes in the TCHH gene. These resources can provide information, support, and connections to others who are going through similar experiences.
See also  SLC37A4 gene

These resources and references listed here can help you further explore and understand the TCHH gene, related hair conditions, and genetic testing options. Remember to consult with healthcare professionals and genetic experts for accurate and personalized information regarding your specific health concerns.

Tests Listed in the Genetic Testing Registry

Tests:

  • TCHH gene

Conditions:

  • Uncombable hair syndrome

OMIM:

  • Other names: Uncombable hair, comb hair, and fuzz hair, genetic variant in TCHH gene

Scientific To Additional Catalog:

  • Names: Uncombable hair of children, Pili trianguli et canaliculi, Spun-glass hair syndrome

Health Testing:

  • Genes: TCHH
  • Uncombable hair
  • Other genetic diseases

Databases:

  • Genetic Testing Registry
  • OMIM
  • PubMed Articles

Instructions:

  1. Collect samples
  2. Follow genetic testing instructions
  3. Examine TCHH gene variant
  4. Compare with related diseases and changes
  5. Reference OMIM and PubMed articles for additional information
  6. Result will indicate presence or absence of genetic variant

Resources:

  • Genetic Testing Registry
  • OMIM
  • PubMed Articles

Scientific Articles on PubMed

There are several scientific articles available on PubMed that provide information on the TCHH gene and related genetic conditions, such as uncombable hair syndrome. These articles discuss the changes and variants found in the TCHH gene, as well as additional genetic tests and health conditions associated with it.

Below is a list of scientific articles related to the TCHH gene and its associated conditions:

  • Uncombable hair syndrome: This article discusses the genetic basis of uncombable hair syndrome and the different variants in the TCHH gene that have been identified through testing.
  • OMIM database: This resource provides comprehensive information on the TCHH gene, including its role in diseases and other genetic conditions.
  • TCHH gene tests: This article outlines the different genetic tests available for the TCHH gene and their relevance to diagnosing and managing certain health conditions.
  • Registry of Uncombable Hair Syndrome: This registry collects information on individuals with uncombable hair syndrome and serves as a valuable resource for researchers studying the condition.
  • References for TCHH gene: This article provides a list of references and sources that researchers can consult for further information on the TCHH gene and its related conditions.
  • Related genes and databases: This article discusses the genes and databases that are closely associated with the TCHH gene and can be helpful in understanding its role in different syndromes and diseases.

These scientific articles and resources serve as important references for researchers and healthcare professionals interested in studying and understanding the TCHH gene and its impact on human health. Further research and testing in this field can result in improved diagnosis and management of genetic conditions associated with the TCHH gene.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Medelian Inheritance in Man) database is a comprehensive registry of human genes and genetic conditions. It provides detailed information on various genes, diseases, and their associated phenotypes. One of the genes listed in the OMIM database is the TCHH gene, which is related to the genetic condition known as Uncombable Hair Syndrome.

Uncombable Hair Syndrome is a rare genetic disorder characterized by dry, frizzy hair that is nearly impossible to comb. It is caused by changes (variants) in the TCHH gene, which provide instructions for producing a protein called trichohyalin that helps give hair its shape and structure.

In addition to the TCHH gene, the OMIM database contains information on many other genes and diseases. The catalog provides a wealth of resources for researchers, healthcare professionals, and individuals interested in genetic conditions. It includes scientific articles, references, and links to other databases.

For those who are interested in genetic testing, the OMIM database provides information on available tests for various genes and diseases. These tests can help diagnose genetic conditions and provide valuable insights into an individual’s health. The database also provides instructions and guidelines for interpreting test results.

  • The OMIM registry includes information on a wide range of genetic conditions, not just those related to the TCHH gene.
  • It is a valuable resource for researchers and clinicians working in the field of genetics.
  • Users can search for specific genes or diseases using the database’s search function.
  • The OMIM database is regularly updated with new information and discoveries in the field of genetics.
See also  EXT2 gene

In conclusion, the OMIM database serves as a comprehensive catalog of genes and diseases. It provides information on the TCHH gene and its association with Uncombable Hair Syndrome, as well as a wealth of resources for genetic testing and other related information. Researchers and healthcare professionals can utilize this database to access scientific articles, references, and testing instructions, making it an invaluable tool in the field of genetics.

Gene and Variant Databases

When it comes to genetic testing for health conditions related to the TCHH gene, there are several gene and variant databases that can provide valuable information. These databases offer a catalog of genetic changes, scientific articles, and additional resources related to diseases and conditions associated with the TCHH gene.

One such database is Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genes, genetic variations, and the relationship between genetic variations and diseases. OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions related to the TCHH gene.

Another database that can be helpful is the Human Gene Mutation Database (HGMD), which is a comprehensive resource for known mutations in human genes, including the TCHH gene. HGMD provides detailed information on the location, nature, and consequences of mutations as well as references to scientific articles and other relevant resources.

The Genetic Testing Registry (GTR) is another valuable resource for individuals seeking information on genetic testing options for conditions related to the TCHH gene. GTR provides information on available tests, laboratories offering the tests, and instructions for clinicians and patients on how to access these tests.

In addition to these databases, there are also other online resources that provide information on genetic conditions related to the TCHH gene. These resources include websites, patient support groups, and scientific publications.

It’s important to note that the information provided in these databases and resources should be used in conjunction with professional medical advice. Genetic testing and interpretation of results should always be done by qualified healthcare professionals.

Key Gene and Variant Databases

  • OMIM (Online Mendelian Inheritance in Man) – Provides comprehensive information on genes, genetic variations, and their relationship to diseases.
  • HGMD (Human Gene Mutation Database) – A comprehensive resource for known mutations in human genes, including the TCHH gene.
  • GTR (Genetic Testing Registry) – Provides information on available genetic tests, laboratories offering the tests, and instructions for accessing the tests.

These databases, along with other resources, can provide valuable information and support for individuals and healthcare professionals involved in genetic testing and research related to the TCHH gene and its associated conditions.

References

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