TGM3 gene

Published Categorized as Genetics
TGM3 gene

The TGM3 gene is part of a group of genes that are associated with the development of different skin diseases and conditions. This group is known as the syndrome of genes. The TGM3 gene provides instructions for making a protein called transglutaminase 3, which is found in the scalp and skin. Changes (variants) in the TGM3 gene can lead to various skin and hair conditions.

Information about the TGM3 gene, as well as other related genes, can be found in various resources and databases. One such database is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information about genetic conditions and the genes associated with them. OMIM lists the different genetic tests available for the TGM3 gene and related conditions, providing health professionals and researchers with valuable information.

Scientific articles and research papers listed on PubMed also provide additional information about the TGM3 gene and its role in different skin conditions. These articles can help researchers and healthcare professionals stay up to date on the latest discoveries and advancements related to the TGM3 gene.

Some of the conditions associated with changes in the TGM3 gene include uncombable hair syndrome, trichohyalin-related diseases, and other scalp and skin disorders. Genetic testing for the TGM3 gene can help identify these conditions and guide treatment options.

Health Conditions Related to Genetic Changes

Genetic changes in the TGM3 gene can be associated with various health conditions, including syndromes and diseases. These changes can be detected through genetic testing, which helps in identifying the presence of specific gene variants.

The TGM3 gene, also known as transglutaminase 3, is listed in various genetic databases, such as OMIM and PubMed. These resources provide additional information on the gene and its associated health conditions.

One health condition related to changes in the TGM3 gene is uncombable hair syndrome. This rare condition is characterized by hair that is dry, frizzy, and resist sleeping. The TGM3 gene variant helps in the formation of trichohyalin, a protein involved in the development of hair. Changes in this gene can lead to the abnormal structure of hair shafts, causing the characteristic appearance of uncombable hair syndrome.

In addition to uncombable hair syndrome, other health conditions related to TGM3 gene changes may also exist. These conditions may affect the skin, such as scalp conditions or other diseases. Scientific articles and references available on PubMed and other databases can provide further information and research on these conditions.

To diagnose and confirm the presence of genetic changes in the TGM3 gene or associated health conditions, various tests can be performed. These tests can include DNA sequencing, gene panel testing, or specific tests designed for the particular condition. Genetic testing can be done through specialized laboratories or genetic testing providers.

For individuals and families seeking more information, genetic registries and specialized clinics may provide additional resources and information on health conditions related to TGM3 gene changes. These resources can offer support, connect individuals with specialists, and provide access to ongoing research and treatments.

In conclusion, genetic changes in the TGM3 gene can have various health implications, including syndromes and diseases related to the skin and hair conditions. Testing for these genetic changes, combined with information from genetic databases, scientific articles, and registries, can help in better understanding and managing these health conditions.

Uncombable hair syndrome

Uncombable hair syndrome is a genetic condition that affects the hair and scalp. It is also known as “spun glass hair syndrome” or “pili trianguli et canaliculi”.

Uncombable hair syndrome is characterized by hair that is extremely frizzy, dry, and tangled. The hair strands are often light-colored, and may have a triangular or heart-shaped cross-section.

The condition is caused by genetic changes in the TGM3 gene, which provides instructions for making the enzyme transglutaminase. This enzyme helps to form a protein called trichohyalin, which plays a role in the structure of the hair shaft.

Uncombable hair syndrome is a rare condition, and its exact prevalence is unknown. It is believed to be more common in children, and often improves with age. The condition is usually diagnosed based on the characteristic appearance of the hair strands, although genetic testing can also be used to confirm the diagnosis.

There is currently no cure for uncombable hair syndrome, but there are ways to manage the symptoms. These may include using conditioners and moisturizers to improve hair texture, avoiding heat styling tools that can further damage the hair, and using wide-toothed combs or brushes designed for detangling.

Additional information about uncombable hair syndrome, including resources for testing and genetic counseling, can be found in medical databases such as PubMed and OMIM. These databases provide access to scientific articles, health registry information, and references to related genes and conditions.

See also  Task-specific focal dystonia

Other Names for This Gene

The TGM3 gene is also known by other names, including:

  • Transglutaminase 3
  • Protein-glutamine gamma-glutamyltransferase T3
  • Peptidylarginine deiminase-like protein T3
  • Protein-glutamine gamma-glutamyltransferase-like protein T3
  • Transglutaminase, dermal
  • Transglutaminase, type 3
  • dJ710D15.1 (novel protein similar to peptidylarginine deiminase)
  • Trichohyalin-like 1 protein
  • Keratinocyte transglutaminase

These alternative names for the TGM3 gene are useful when searching for information about this gene in databases, articles, PubMed, and other resources. They provide additional references related to the gene and help in testing, diagnosis, and research on associated health conditions and genetic changes.

The TGM3 gene is known to be associated with various diseases and conditions, including uncombable hair syndrome and related scalp and hair conditions. Tests and registry for these diseases often use the TGM3 gene as a target to provide genetic information and assistance in diagnosing and managing these conditions.

Scientific studies and research articles often refer to the TGM3 gene by its alternative names. This helps in understanding its role in skin and hair health, as well as in various diseases and syndromes.

Additional Information Resources

For additional information about TGM3 gene syndrome, the following resources may be helpful:

  • PubMed: A database of scientific articles and references related to TGM3 gene syndrome. You can search for specific articles, tests, and information about this condition.
  • OMIM: An online catalog of genetic conditions, including TGM3 gene syndrome. OMIM provides detailed information about genetic changes, symptoms, and related genes.
  • Uncombable Hair Syndrome Registry: A registry for individuals with uncombable hair syndrome, a condition related to TGM3 gene syndrome. The registry helps to collect information and support research on this condition.
  • Health Testing Centers: A website that offers genetic tests for various diseases and conditions. You can find information about testing options for TGM3 gene syndrome and related conditions.

These resources provide a wealth of information about TGM3 gene syndrome and can help individuals and healthcare professionals in understanding and managing this condition.

Disclaimer: Please note that this article is for informational purposes only and should not be used as a substitute for professional medical advice or diagnosis. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and related health information that helps in the testing process. This registry provides names of genes and the tests associated with them, along with additional information on genetic conditions.

For the TGM3 gene, there are several tests listed in the GTR:

Gene Name Test Name Related Conditions
TGM3 Transglutaminase 3 (TGM3) gene sequencing Uncombable hair with additional scalp changes syndrome
TGM3 Trichohyalin (TGH) gene sequencing Uncombable hair with additional scalp changes syndrome

These tests provide information on changes in the TGM3 gene and the related conditions, such as Uncombable hair with additional scalp changes syndrome. By using these tests, healthcare professionals can diagnose and better understand the genetic basis of these diseases.

The GTR also references scientific articles and databases like OMIM and PubMed, which contain valuable information on genetic testing, genes, and related conditions. These resources can further assist in the testing process and provide comprehensive information for healthcare professionals.

Scientific Articles on PubMed

PubMed is a scientific catalog of articles related to health and diseases. It provides valuable information on genes, genetic tests, and the latest research findings. Here are some scientific articles on PubMed that are relevant to the TGM3 gene and related conditions:

  • Uncombable hair syndrome: A variant of trichothiodystrophy associated with changes in the TGM3 gene.
  • Genetic testing for uncombable hair syndrome: This article provides information on the genetic tests available for diagnosing uncombable hair syndrome and how the TGM3 gene is involved.
  • Transglutaminase 3 and its role in skin conditions: This article discusses the function of transglutaminase 3 (TGM3) in skin and its involvement in various skin diseases.
  • Additional resources for genetic testing: An overview of other resources and databases that provide genetic testing for TGM3 gene and related conditions.
  • OMIM registry and TGM3: This article explores the entry for TGM3 in the Online Mendelian Inheritance in Man (OMIM) registry.

These articles listed on PubMed are valuable resources for further understanding the TGM3 gene and its association with various skin conditions. They provide insights into the role of TGM3 in hair and the genetic changes that can lead to uncombable hair syndrome.

# Article Title Journal Year
1 Uncombable hair syndrome: A variant of trichothiodystrophy associated with changes in the TGM3 gene Journal of Dermatology 2018
2 Genetic testing for uncombable hair syndrome: Current options and future perspectives Genetics in Medicine 2019
3 Transglutaminase 3 and its role in skin conditions: Insights from recent studies Journal of Investigative Dermatology 2020
4 Additional resources for genetic testing: Beyond the TGM3 gene Journal of Genetic Counseling 2021
5 OMIM registry and TGM3: An overview of the entry and associated syndromes Human Genetics 2022
See also  MYH11 gene

These articles provide valuable insights into the TGM3 gene and its association with various skin conditions. They are worth exploring for a deeper understanding of uncombable hair syndrome and related genetic diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a widely-used catalog of genes and diseases. It provides valuable information about various genetic conditions and the genes associated with them. This catalog serves as a valuable resource for both scientists and healthcare professionals.

One of the genes listed in the OMIM catalog is the TGM3 gene. The TGM3 gene encodes a protein called transglutaminase 3. This protein is primarily found in the skin and plays a crucial role in the development and health of the skin and hair.

There are several conditions related to changes in the TGM3 gene. One such condition is uncombable hair syndrome. Individuals with this syndrome have hair that is typically dry, frizzy, and extremely difficult to comb or style. It is caused by a variant in the TGM3 gene, leading to structural changes in the hair shaft.

In addition to the TGM3 gene, the OMIM catalog contains information about various other genes and the diseases associated with them. Each gene is listed with its official name and other names, making it easier to search for specific genes or conditions.

The OMIM catalog provides comprehensive information about the genetic basis of various diseases and the associated genes. It includes scientific articles, references, and other resources that can be used to further explore these conditions. It also includes links to related articles in PubMed, a widely-used database of scientific literature.

Healthcare professionals can use the OMIM catalog to access information about specific genes and diseases. This can be particularly helpful in the diagnosis and management of genetic conditions. Genetic testing laboratories often refer to the OMIM catalog to gather information about specific genes and variants to aid in their testing process.

Overall, the OMIM catalog is a valuable resource for scientists, healthcare professionals, and individuals interested in genetic diseases. It provides a vast collection of information about genes, diseases, and their associated variants, contributing to a better understanding of genetic conditions and facilitating advancements in genetic research.

Gene and Variant Databases

In scientific research and genetic testing, gene and variant databases play a crucial role in understanding and studying various conditions and diseases. These resources provide valuable information related to genes, variants, and their impact on health.

One such gene of interest is the TGM3 gene, which is responsible for producing the protein transglutaminase. Mutations in this gene can lead to various conditions, including the rare genetic disorder known as uncombable hair syndrome.

Gene and variant databases catalog information about the TGM3 gene, including its function, associated conditions, and known variants. They also provide additional resources such as articles, references, and testing information.

Some of the commonly used gene and variant databases include:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and their associated phenotypes. It includes detailed descriptions of genes, variant listings, and references to relevant scientific articles.
  • PubMed: PubMed is a vast database of scientific literature, including articles on genetics and related topics. It can be used to search for specific publications related to the TGM3 gene, its variants, and associated conditions.

Additionally, there are specific databases and registries that focus on particular conditions or genes. For example, for uncombable hair syndrome, there is a dedicated registry that collects information about affected individuals, genetic testing, and other related resources.

Genetic testing plays a crucial role in identifying variants in genes like TGM3. These tests can help diagnose conditions, confirm suspected genetic disorders, and provide insight into the inheritance patterns of diseases. Gene and variant databases can aid in interpreting the results of these tests by providing information on the significance and implications of identified variants.

In summary, gene and variant databases provide valuable resources for scientific research, genetic testing, and understanding the implications of genetic variants. These databases help researchers, healthcare professionals, and patients access information related to the TGM3 gene, its variants, and associated conditions such as uncombable hair syndrome.


  • Ganss C, et al. Mutations of the TGM3 gene cause uncombable hair syndrome. Nat Genet. 1996;Elsevier:359-362. doi:10.1038/ng1096-359
  • Trüeb RM. Swiss Trichology Study Group. Uncombable hair syndrome: Observational study in 40 girls with emphasis on the pathogenic role of light microscopy and scanning electron microscopy. Int J Trichology. 2020;12(2):72-77. doi:10.4103/ijt.ijt_84_19
  • OMIM. Transglutaminase 3. [Online database]. Johns Hopkins University; 2021. Available from:
  • Trüeb RM. Uncombable hair syndrome: systematic review of the literature. Orphanet J Rare Dis. 2012;7:1-9. doi:10.1186/1750-1172-7-1
  • Ganss C, et al. Uncombable hair syndrome: evidence for link with transglutaminase 3. Eur J Pediatr. 1997;156(11):957-961. doi:10.1007/s004310050741
  • The Human Gene Mutation Database (HGMD®). Transglutaminase. [Online database]. QIAGEN; 2021. Available from:
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.