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TGM gene family
Reviewed April 2014
What are the TGM genes?
Genes in the TGM family provide instructions for making proteins called transglutaminases, which are found in cells and tissues throughout the body. Most transglutaminases are enzymes that modify other proteins and participate in cell signaling.
The best-understood function of transglutaminase enzymes is the formation of strong bonds (cross-links) between other proteins. A transglutaminase called factor XIII (produced from the F13A1 gene) cross-links certain proteins in the blood to help form clots in response to injury. Several other transglutaminases are active in the outer layer of the skin (the epidermis). These enzymes cross-link proteins in the cornified cell envelope, which is a structure that surrounds epidermal cells and helps the skin form a protective barrier between the body and its environment. Transglutaminase 2 (produced from the TGM2 gene) may have the most varied functions of all the transglutaminases: in addition to cross-linking proteins, it is involved in transmitting chemical signals, the controlled self-destruction of cells (apoptosis), and cell maturation (differentiation).
One member of the TGM gene family, EPB42, provides instructions for making a protein that has a similar structure to other transglutaminases but does not function as an enzyme. This protein plays a role in maintaining the shape of red blood cells.
Mutations in genes in the TGM family are involved in a variety of diseases. For example, changes in the F13A1 gene lead to a shortage of factor XIII, which can cause abnormal bleeding and slow wound-healing. Mutations in the TGM1 and TGM5 genes cause the skin diseases lamellar ichthyosis and acral peeling skin syndrome, respectively. Alterations in the TGM2 gene are thought to contribute to several common disorders, including clouding of the lens of the eyes (cataracts), cancers, and autoimmune diseases, which occur when the immune system malfunctions and attacks the body's own tissues and organs.
Which genes are included in the TGM gene family?
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene
What conditions are related to genes in the TGM gene family?
Genetics Home Reference includes these conditions related to genes in the TGM gene family:
Where can I find additional information about the TGM gene family?
You may find the following resources about the TGM gene family helpful.
Where can I find general information about genes and gene families?
The Handbook provides basic information about genetics in clear language.
What glossary definitions help with understanding the TGM gene family?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (4 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.