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TGM1 / Transglutaminase 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).
Gene Name: | transglutaminase 1 |
Synonyms: | TGM1, Epidermal TGase, LI1, ICR2, LI, TG(K), Transglutaminase-1, TGase K, TGase-1, Transglutaminase, keratinocyte, Transglutaminase i (k), KTG, TGASE, TGK, Transglutaminase, Transglutaminase 1 isoform, Transglutaminase K |
Target Sequences: | NM_000359 NP_000350.1 P22735 |
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