GCLC

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]

Description

glutamate-cysteine ligase, catalytic subunit

Protein family

Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

6:p12.1 (53497341 - 53616970)

Ensembl ID

ENSG00000001084  (ver. 84.38)

Orthologs

Mouse Gclc: ENSMUSG00000032350

UniProt

P48506

neXtProt

NX_P48506

Human splice variants
Mouse splice variants