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TGM1

TGM1

Reviewed August 2010

What is the official name of the TGM1 gene?

The official name of this gene is “transglutaminase 1.”

TGM1 is the gene's official symbol. The TGM1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the TGM1 gene?

The TGM1 gene provides instructions for making an enzyme called transglutaminase-1. This enzyme is found in cells that make up the outermost layer of the skin (the epidermis). The transglutaminase-1 enzyme is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and protects against water loss and infection. The cornified cell envelope is made up of multiple proteins that are linked to one another (crosslinked). The crosslinking of these proteins is facilitated by the transglutaminase-1 enzyme.

Does the TGM1 gene share characteristics with other genes?

The TGM1 gene belongs to a family of genes called TGM (transglutaminases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the TGM1 gene related to health conditions?

lamellar ichthyosis - caused by mutations in the TGM1 gene

Many mutations in the TGM1 gene have been found to cause lamellar ichthyosis. Some TGM1 gene mutations that cause this condition change single DNA building blocks (nucleotides) in the transglutaminase-1 enzyme. One mutation (written as 2526A>G) is particularly common in affected individuals of Norwegian descent. TGM1 gene mutations result in a transglutaminase-1 enzyme that cannot function normally, is abnormally short, or is not produced. A shortened or absent enzyme likely leads to more severe features of the disorder than an enzyme that still has some residual function. Mutations in the TGM1 gene lead to impaired formation and stability of the cornified cell envelope, causing the skin abnormalities and other features of lamellar ichthyosis.

other disorders - caused by mutations in the TGM1 gene

Other forms of ichthyosis have been found to be caused by TGM1 gene mutations. In one form, called self-healing collodion baby, individuals are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life, and affected infants often show near normal skin within a few months. Another type of ichthyosis, called bathing suit ichthyosis, is characterized by skin abnormalities that are limited to the trunk.

Where is the TGM1 gene located?

Cytogenetic Location: 14q11.2

Molecular Location on chromosome 14: base pairs 24,249,113 to 24,263,209

The TGM1 gene is located on the long (q) arm of chromosome 14 at position 11.2.

The TGM1 gene is located on the long (q) arm of chromosome 14 at position 11.2.

More precisely, the TGM1 gene is located from base pair 24,249,113 to base pair 24,263,209 on chromosome 14.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TGM1?

You and your healthcare professional may find the following resources about TGM1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TGM1 gene or gene products?

  • epidermal TGase
  • ICR2
  • protein-glutamine gamma-glutamyltransferase K
  • TGASE
  • TGase-1
  • TGase K
  • TGK
  • TGM1_HUMAN
  • transglutaminase-1
  • transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
  • transglutaminase K
  • transglutaminase, keratinocyte

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TGM1?

cell ; DNA ; enzyme ; epidermis ; gene ; glutamine ; ichthyosis ; infection ; keratinocyte ; mutation ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: August 2010
Published: December 16, 2014