GGT1 gene

gamma-glutamyltransferase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • gamma-Glutamyltransferase deficiency

From UniProt:

Glutathionuria (GLUTH): Autosomal recessive disease. [MIM:231950]

Cytogenetic Location: 22q11.23, which is the long (q) arm of chromosome 22 at position 11.23

Molecular Location: base pairs 24,583,750 to 24,629,005 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q11.23, which is the long (q) arm of chromosome 22 at position 11.23
  • CD224
  • D22S672
  • D22S732
  • GGT
  • GGT 1
  • GTG