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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.
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.
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 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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; DNA ; enzyme ; epidermis ; gene ; ichthyosis ; infection ; keratinocyte ; mutation ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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.