2310004J08Rik ARCI1 ICR2 KTG LI LI1 TGASE Tgase1 TGK
Gene Full Name
transglutaminase 1
Gene Summary
The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]
Alternative Names
epidermal TGase glutamine gamma-glutamyltransferase K K polypeptide K polypeptide epidermal type I protein-glutamine-gamma-glutamyltransferase protein-glutamine-gamma-glutamyltransferase TG(K) TGase K TGase-1 TGK transglutaminase 1 (K polypeptide epidermal type I protein-glutamine-gamma-glutamyltransferase) transglutaminase 1 K polypeptide transglutaminase K transglutaminase type 1 transglutaminase keratinocyte transglutaminase-1