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TGM1 transglutaminase 1

Also known as: LI; KTG; LI1; TGK; ICR2; ARCI1; TGASE

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, Jul 2008]

Genomic context

Location:
14q12
Sequence:
Chromosome: 14; NC_000014.9 (24249114..24263210, complement)
Total number of exons:
15

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