KEGG   VARIANT: 2879v1
Entry
2879v1                      Variant                                
Name
GPX4 mutation
Gene
GPX4  glutathione peroxidase 4 [KO:K05361]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138322
Network
nt06026  Glutathione biosynthesis
nt06525  Ferroptosis
Disease
H01825  Spondylometaphyseal dysplasia, Sedaghatian type
Reference
  Authors
Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE
  Title
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.
  Journal
J Med Genet 51:470-4 (2014)
DOI:10.1136/jmedgenet-2013-102218
Reference
  Authors
Seibt TM, Proneth B, Conrad M
  Title
Role of GPX4 in ferroptosis and its pharmacological implication.
  Journal
Free Radic Biol Med 133:144-152 (2019)
DOI:10.1016/j.freeradbiomed.2018.09.014
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