Entrez gene ID | | 7051 |
Official gene symbol | | TGM1 |
Full name | | transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) |
Aliases | | ,ICR2,KTG,LI,LI1,TGASE,TGK, |
Gene 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] |
Location | | Chromosome: 14 Locus: 14q11.2 |
Gene position | | 24732416 - 24718320 Map Viewer |
Gene orientation | | minus |
Gene size | | 14097 bp |
Gene sequence |
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OMIM ID | | 190195 |