Glutamate--cysteine ligase catalytic subunit

Catalyzes the ATP-dependent ligation of L-glutamate and L-cysteine and participates in the first and rate-limiting step in glutathione biosynthesis.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2.

Belongs to the glutamate--cysteine ligase type 3 family.

GLCL, GLCLC, GCLC, Glutamate--cysteine ligase catalytic subunit, GCS heavy chain, Gamma-ECS, Gamma-glutamylcysteine synthetase

• entrezGene:2729
• omim:606857
• swissprot:P48506

Proteins

Neuroscience

72766Da