Gene Symbol | TGM5 |
Entrez Gene ID | 9333 |
Full Name | transglutaminase 5 |
Synonyms | PSS2,TGASE5,TGASEX,TGM6,TGMX,TGX |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Peeling skin syndrome 2, 609796 (3) |