This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and mental retardation. Alteative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10.
Apoptosis-inducing factor (AIF) is one of the mitochondrial proteins to be released into the cytosol during apoptosis, and it is discovered as the first protein that regulates caspase-independent apoptosis(PMID:20494118). AIF is encoded as a 67 kDa protein that contains a mitochondrial localization signal (MLS) in the N-terminus.It is cleaved from the 62 kDa to the 57 kDa form following ischemic injury and translocated from the mitochondria to the nucleus in a calpain-dependent manner(PMID:19332058).