Aliases for GCLC Gene
External Ids for GCLC Gene
Previous HGNC Symbols for GCLC Gene
Previous GeneCards Identifiers for GCLC Gene
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]
GeneCards Summary for GCLC Gene
GCLC (Glutamate-Cysteine Ligase Catalytic Subunit) is a Protein Coding gene. Diseases associated with GCLC include Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency and Gamma-Glutamylcysteine Synthetase Deficiency. Among its related pathways are Phase II conjugation and Glutathione metabolism. GO annotations related to this gene include protein heterodimerization activity and coenzyme binding.