Aliases for TGM1 Gene
External Ids for TGM1 Gene
Previous HGNC Symbols for TGM1 Gene
Previous GeneCards Identifiers for TGM1 Gene
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]
GeneCards Summary for TGM1 Gene
TGM1 (Transglutaminase 1) is a Protein Coding gene. Diseases associated with TGM1 include Ichthyosis, Congenital, Autosomal Recessive 1 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is F13A1.
UniProtKB/Swiss-Prot Summary for TGM1 Gene
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141).