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Reviewed August 2010
What is the official name of the TGM1 gene?
The official name of this gene is “transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase).”
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.
How are changes in the TGM1 gene related to health conditions?
Where is the TGM1 gene located?
Cytogenetic Location: 14q11.2
Molecular Location on chromosome 14: base pairs 24,718,319 to 24,732,415
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 24,718,319 to base pair 24,732,415 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?
See How are genetic conditions and genes named? in the Handbook.
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?
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.