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Genetics Home Reference: your guide to understanding genetic conditions
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TGM1

Reviewed March 2015

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.

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). Transglutaminase 1 is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and helps form a protective barrier between the body and its environment. Specifically, transglutaminase 1 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 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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) 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, which is a condition that causes scaly skin that covers much of the body, and other skin abnormalities. Some TGM1 gene mutations that cause this condition change single DNA building blocks (nucleotides) in the transglutaminase 1 enzyme. The most frequently occurring mutation (written as 877-2A>G) affects the way the gene's instructions are pieced together to form the enzyme and results in an abnormally shortened, nonfunctional enzyme. Other TGM1 gene mutations result in a transglutaminase 1 enzyme that cannot function normally, is abnormally short, or is not produced. A lack of functional transglutaminase 1 prevents the formation of the cornified cell envelope, causing the skin abnormalities of lamellar ichthyosis.

other disorders - caused by mutations in the TGM1 gene

In addition to lamellar ichthyosis (described above), TGM1 gene mutations have been found to cause other forms of ichthyosis. In one type, called self-healing collodion baby, affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off 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 scaly skin that is 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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding TGM1?

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23. (http://www.ncbi.nlm.nih.gov/pubmed/18948357?dopt=Abstract)
  • Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19241467?dopt=Abstract)
  • Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E. Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. Clin Exp Dermatol. 2013 Dec;38(8):911-6. doi: 10.1111/ced.12148. Epub 2013 Apr 26. (http://www.ncbi.nlm.nih.gov/pubmed/23621129?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7051)
  • Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20643494?dopt=Abstract)
  • Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Autosomal recessive congenital ichthyosis. Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Epub 2013 Apr 3. Review. English, Spanish. (http://www.ncbi.nlm.nih.gov/pubmed/23562412?dopt=Abstract)
  • Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M, Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E. Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. Cell Death Dis. 2012 Oct 25;3:e416. doi: 10.1038/cddis.2012.152. (http://www.ncbi.nlm.nih.gov/pubmed/23096117?dopt=Abstract)
  • OMIM: TRANSGLUTAMINASE 1 (http://omim.org/entry/190195)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2015
Published: March 23, 2015