{"symbol":"TGM1","synonyms":["LI1","TGK","ICR2","LI","KTG","TGASE","ARCI1"],"name":"transglutaminase 1","description":"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\u0027 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]","ncbiEntrezGeneId":7051,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7051","proteins":[{"symbol":"TGM1_HUMAN","href":"/api/1.0/protein/TGM1_HUMAN"}],"hgncRootFamilies":[{"name":"Transglutaminases (TGM)","href":"/api/1.0/gene_family/Transglutaminases+%28TGM%29"}]}