TGM1 Antibody – Mouse Monoclonal

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]

TGM1: an enzyme of the transglutaminase family that catalyzes the crosslinking of proteins and the conjugation of polyamines to proteins. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. Responsible for cross-linking epidermal proteins during formation of the stratum corneum.

Protein type: EC 2.3.2.13; Transferase

Chromosomal Location of Human Ortholog: 14q11.2

Cellular Component: cell-cell adherens junction; cornified envelope; intrinsic to membrane

Molecular Function: protein binding; protein-glutamine gamma-glutamyltransferase activity; metal ion binding

Biological Process: cell envelope organization and biogenesis; keratinocyte differentiation; organ morphogenesis; keratinization; protein modification process; peptide cross-linking

Disease: Ichthyosis, Congenital, Autosomal Recessive 1