DISEASES

Disease-gene associations mined from literature

Literature associating AIFM1 and X-linked deafness 4

AIFM1 [ENSP00000287295]

Apoptosis-inducing factor 1, mitochondrial; 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. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA (By similarity). Binds to DNA in a sequence-independent manner . Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis . Plays a critical role in caspase- independent, pyknotic cell death in hydrogen peroxide-exposed cells . In contrast, participates in normal mitochondrial metabolism. Plays an important role in the regulation of respiratory chain biogenesis by interacting with CHCHD4 and controlling CHCHD4 mitochondrial import . ECO:0000269|PubMed:17094969, ECO:0000269|PubMed:19418225, ECO:0000269|PubMed:20362274, ECO:0000269|PubMed:23217327, [Isoform 5]: Pro-apoptotic isoform.

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

Linkouts:  STRING  Pharos  UniProt  OMIM