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TGM5

TGM5

Reviewed April 2014

What is the official name of the TGM5 gene?

The official name of this gene is “transglutaminase 5.”

TGM5 is the gene's official symbol. The TGM5 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 TGM5 gene?

The TGM5 gene provides instructions for making an enzyme called transglutaminase 5. This enzyme is found in many of the body's tissues, although it seems to play a particularly important role in the outer layer of skin (the epidermis). In the epidermis, transglutaminase 5 is involved in the formation of the cornified cell envelope, which is a structure that surrounds cells and helps the skin form a protective barrier between the body and its environment. Specifically, transglutaminase 5 forms strong bonds, called cross-links, between the structural proteins that make up the cornified cell envelope. This cross-linking provides strength and stability to the epidermis.

Does the TGM5 gene share characteristics with other genes?

The TGM5 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 TGM5 gene related to health conditions?

acral peeling skin syndrome - caused by mutations in the TGM5 gene

At least 22 mutations in the TGM5 gene have been found to cause acral peeling skin syndrome. This condition is characterized by painless peeling of the top layer of skin that is most apparent on the hands and feet but can also affect the arms and legs. Most of the mutations change single protein building blocks (amino acids) in transglutaminase 5, including the most common mutation in people of European ancestry, which replaces the amino acid glycine with the amino acid cysteine at position 113 (written as Gly113Cys or G113C). TGM5 gene mutations reduce the amount of transglutaminase 5 that is produced or prevent cells from making any of this enzyme. A shortage of transglutaminase 5 impairs protein cross-linking, which weakens the cornified cell envelope and allows the outermost cells of the epidermis to separate easily from the underlying skin and peel off. This peeling is most noticeable on the hands and feet probably because those areas tend to be heavily exposed to moisture and friction.

Where is the TGM5 gene located?

Cytogenetic Location: 15q15.2

Molecular Location on chromosome 15: base pairs 43,232,594 to 43,267,022

The TGM5 gene is located on the long (q) arm of chromosome 15 at position 15.2.

The TGM5 gene is located on the long (q) arm of chromosome 15 at position 15.2.

More precisely, the TGM5 gene is located from base pair 43,232,594 to base pair 43,267,022 on chromosome 15.

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

Where can I find additional information about TGM5?

You and your healthcare professional may find the following resources about TGM5 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 TGM5 gene or gene products?

  • protein-glutamine gamma-glutamyltransferase 5
  • protein-glutamine gamma-glutamyltransferase 5 isoform 1
  • protein-glutamine gamma-glutamyltransferase 5 isoform 2
  • TGASE5
  • TGase-5
  • TGASEX
  • TGase X
  • TGM5_HUMAN
  • TGM6
  • TGMX
  • TGX
  • TG(X)
  • transglutaminase-5
  • transglutaminase V
  • transglutaminase X

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 TGM5?

acids ; acral ; amino acid ; cell ; cysteine ; enzyme ; epidermis ; gene ; glutamine ; glycine ; mutation ; protein ; syndrome

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

See also Understanding Medical Terminology.

References (8 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: April 2014
Published: August 3, 2015