TGM1

Also known as ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK, transglutaminase 1

protein-coding gene in the species Homo sapiens

Gene data

TGM1

Name: transglutaminase 1
Type: protein-coding
Position: 24,249,114–24,264,432 (−)
Aliases: ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK
Ensembl: ENSG00000285348
RefSeq RNA: NM_000359.3
RefSeq protein: NP_000350.1

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].