TGM1

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]

Description

transglutaminase 1

Protein family

Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

14:q12 (24249114 - 24264432)

Ensembl ID

ENSG00000092295  (ver. 84.38)

Orthologs

Mouse Tgm1: ENSMUSG00000022218

UniProt

P22735

neXtProt

NX_P22735

Human splice variants
Mouse splice variants