KEGG   VARIANT: 2729v1
Entry
2729v1                      Variant                                
Name
GCLC deficiency
Gene
GCLC  glutamate-cysteine ligase catalytic subunit [KO:K11204]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606857
Network
nt06026  Glutathione biosynthesis
nt06525  Ferroptosis
Disease
H00668  Anemia due to disorders of glutathione metabolism
Reference
  Authors
Beutler E, Gelbart T, Kondo T, Matsunaga AT
  Title
The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
  Journal
Blood 94:2890-4 (1999)
Reference
  Authors
Kang YP, Mockabee-Macias A, Jiang C, Falzone A, Prieto-Farigua N, Stone E, Harris IS, DeNicola GM
  Title
Non-canonical Glutamate-Cysteine Ligase Activity Protects against Ferroptosis.
  Journal
Cell Metab 33:174-189.e7 (2021)
DOI:10.1016/j.cmet.2020.12.007
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