Disease-gene associations mined from literature

Literature associating AIFM1 and spondyloepimetaphyseal dysplasia

AIFM1 [ENSP00000287295]

Apoptosis-inducing factor, mitochondrion-associated, 1; Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. In contrast, functions as an antiapoptotic factor in normal mitochondria via its NADH oxidoreductase activity. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA. Interacts with EIF3G,and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 to amplify apoptosis. Plays a critical role in caspase- independent, pyknotic cell death in hydrogen peroxide-exposed cells. Binds to DNA in a sequence-independent manner.

Synonyms:  AIFM1,  AIFM1p,  hAIFM1,  E9PMA0,  E9PMQ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM