TGM5 (transglutaminase 5) is a protein-coding gene located on chromosome 15q15.2. Diseases associated with TGM5 include peeling skin syndrome. Associated metabolic pathways include developmental biology and keratinization.
TGM5 Gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
This gene encodes a member of the transglutaminase family. The encoded protein catalyzes the formation of protein crosslinks between glutamine and lysine residues, often leading to stabilization of protein assemblies. This reaction is calcium dependent.
Numerous mutations in this gene have been associated with acral peeling syndrome, a suprabasal epidermolysis bullosa simplex (Szczecinska W et al. 2014).
LiteratureThis section has been translated automatically.
- Szczecinska W et al (2014) Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. Br J Dermatol171:1206-1210.
- van der Velden JJ et al (2012) A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. J Dermatol Sci 65:74-76.