Gene Symbol | TGM1 |
Entrez Gene ID | 7051 |
Full Name | transglutaminase 1 |
Synonyms | ARCI1,ICR2,KTG,LI,LI1,TGASE,TGK |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Ichthyosis, congenital, autosomal recessive 1, 242300 (3) |