Gene: GCLC

Alternate names for this Gene: GCL|GCS|GLCL|GLCLC

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.1

Description of this Gene: glutamate-cysteine ligase catalytic subunit

Type of Gene: protein-coding

rs534957 in GCLC gene and Benign Prostatic Hyperplasia PMID 30988330 2019 Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network.

rs760031222 in GCLC gene and Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to PMID 10515893 1999 The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.

PMID 10733484 2000 A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.

PMID 12663448 2003 A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production.