GCLC gene

glutamate-cysteine ligase catalytic subunit

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

From NCBI 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]

From NCBI Gene:

  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
  • Myocardial infarction 1

From UniProt:

Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD): A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. [MIM:230450]

Cytogenetic Location: 6p12, which is the short (p) arm of chromosome 6 at position 12

Molecular Location: base pairs 53,497,341 to 53,545,129 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p12, which is the short (p) arm of chromosome 6 at position 12
  • GCL
  • GCS
  • GLCL
  • GLCLC