DISEASES

Disease-gene associations mined from literature

Literature associating AIFM2 and familial febrile seizures 9

AIFM2 [ENSP00000478931]

Ferroptosis suppressor protein 1; A NAD(P)H-dependent oxidoreductase involved in cellular oxidative stress response. At the plasma membrane, catalyzes reduction of coenzyme Q/ubiquinone-10 to ubiquinol-10, a lipophilic radical- trapping antioxidant that prevents lipid oxidative damage and consequently ferroptosis. Cooperates with GPX4 to suppress phospholipid peroxidation and ferroptosis. This anti-ferroptotic function is independent of cellular glutathione levels (PubMed:31634899, PubMed:31634900). May play a role in mitochondrial stress signaling. Upon oxidative stress, associates with the lipid peroxidation end product 4-hydroxy-2-nonenal (HNE) forming a lipid adduct devoid of oxidoreductase activity, which then translocates from mitochondria into the nucleus triggering DNA damage and cell death . Capable of DNA binding in a non-sequence specific way . ECO:0000269|PubMed:26689472, ECO:0000269|PubMed:31634899,

Synonyms:  AIFM2,  AIFM2p,  hAIFM2,  Q9BRQ8,  Q9BRQ8p ...

Linkouts:  STRING  Pharos  UniProt