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 key role in the outer layer of skin (the epidermis). In the epidermis, transglutaminase 5 is involved in the formation of a structure called the cornified cell envelope, which surrounds epidermal 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.
Other Names
protein-glutamine gamma-glutamyltransferase 5; protein-glutamine gamma-glutamyltransferase 5 isoform 1; protein-glutamine gamma-glutamyltransferase 5 isoform 2; TG(X); TGase X; TGase-5; TGASE5; TGASEX; TGM5_HUMAN; TGM6; TGMX; TGX; transglutaminase V; transglutaminase X; transglutaminase-5
Related Genetics Topics
- Acral peeling skin syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 9333
- OMIM: 603805
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
