Aliases for GGT1 Gene
External Ids for GGT1 Gene
Previous HGNC Symbols for GGT1 Gene
Previous GeneCards Identifiers for GGT1 Gene
The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014]
GeneCards Summary for GGT1 Gene
GGT1 (Gamma-Glutamyltransferase 1) is a Protein Coding gene. Diseases associated with GGT1 include glutathionuria and osteogenesis imperfecta, type i. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include gamma-glutamyltransferase activity and glutathione hydrolase activity. An important paralog of this gene is GGTLC2.
UniProtKB/Swiss-Prot for GGT1 Gene
Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates, and other gamma-glutamyl compounds. The metabolism of glutathione releases free glutamate and the dipeptide, cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases. In the presence of high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound. Initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Isoform 3 seems to be inactive.