GCLC Antibody – Rabbit Polyclonal

Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]

GCLC: Defects in GCLC are the cause of hemolytic anemia (HAGGSD). Belongs to the glutamate--cysteine ligase type 3 family.

Protein type: Ligase; EC 6.3.2.2; Other Amino Acids Metabolism - glutathione

Chromosomal Location of Human Ortholog: 6p12

Cellular Component: glutamate-cysteine ligase complex; cytosol

Molecular Function: glutamate binding; protein heterodimerization activity; glutamate-cysteine ligase activity; magnesium ion binding; coenzyme binding; ADP binding; ATP binding

Biological Process: glutamate metabolic process; response to arsenic; L-ascorbic acid metabolic process; response to hormone stimulus; response to nitrosative stress; cysteine metabolic process; apoptotic mitochondrial changes; cell redox homeostasis; response to heat; sulfur amino acid metabolic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; xenobiotic metabolic process; glutathione biosynthetic process; negative regulation of protein ubiquitination; negative regulation of neuron apoptosis; response to oxidative stress; negative regulation of transcription, DNA-dependent; regulation of mitochondrial depolarization; regulation of blood vessel size; negative regulation of apoptosis

Disease: Gamma-glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To; Myocardial Infarction, Susceptibility To