Encyclopedia
Transglutaminase 1: The TGM1 gene provides instructions for making an enzyme called transglutaminase 1.
- genes
1. Normal Function
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.
2. Health Conditions Related to Genetic Changes
2.1. Lamellar ichthyosis
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.
2.2. Other disorders
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.
3. Other Names for This Gene
- epidermal TGase
- ICR2
- protein-glutamine gamma-glutamyltransferase K
- TGASE
- TGase K
- TGase-1
- TGK
- TGM1_HUMAN
- transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
- transglutaminase K
- transglutaminase, keratinocyte
- transglutaminase-1
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/tgm1
References
- Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P,Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigationsof 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.
- Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, BaleSJ, 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.
- Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-DeutschO, Harel A, Mashiach Y, Sarig O, Sprecher E. Non-syndromic autosomal recessivecongenital ichthyosis in the Israeli population. Clin Exp Dermatol. 2013Dec;38(8):911-6. doi: 10.1111/ced.12148.
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- Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Autosomal recessivecongenital ichthyosis. Actas Dermosifiliogr. 2013 May;104(4):270-84. doi:10.1016/j.adengl.2011.11.021.
- 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.
