GGT1 Antibody – Rabbit Polyclonal

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]

GGT1: 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. Catalyzes the transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors. Alternatively, glutathione can be hydrolyzed to give Cys-Gly and gamma glutamate. Isoform 3 seems to be inactive. Defects in GGT1 are a cause of glutathionuria (GLUTH); also known as gamma-glutamyltranspeptidase deficiency. It is an autosomal recessive disease. Belongs to the gamma-glutamyltransferase family. 3 isoforms of the human protein are produced by alternative promoter.

Protein type: Other Amino Acids Metabolism - cyanoamino acid; Lipid Metabolism - arachidonic acid; Other Amino Acids Metabolism - glutathione; Other Amino Acids Metabolism - selenoamino acid; Transferase; EC 3.4.19.14; Other Amino Acids Metabolism - taurine and hypotaurine; Membrane protein, integral; EC 2.3.2.2; EC 3.4.19.13

Chromosomal Location of Human Ortholog: 22q11.23

Cellular Component: anchored to external side of plasma membrane; extracellular space; integral to membrane; plasma membrane

Molecular Function: protein binding; gamma-glutamyltransferase activity

Biological Process: amino acid metabolic process; glutamate metabolic process; regulation of immune system process; cysteine biosynthetic process; leukotriene metabolic process; proteolysis; leukotriene biosynthetic process; glutathione metabolic process; xenobiotic metabolic process; regulation of inflammatory response; glutathione catabolic process; glutathione biosynthetic process; arachidonic acid metabolic process; spermatogenesis; zymogen activation

Disease: Glutathionuria