Gamma-glutamylcysteine synthetase deficiency

Synonym(s)
- Glutamate-cysteine ligase deficiency
Type

Disease
External link(s)
Gene
- GCLC / Glutamate-Cysteine Ligase Catalytic Subunit
  6p12.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glutamate--cysteine ligase catalytic subunit
Pathway
- Glutathione metabolism
Disease group(s)
- 2.1 Disorders of glutathione metabolism