AIFM1

Apoptosis-inducing factor 1, mitochondrial is a is_associated_with::protein that in humans is encoded by the AIFM1 is_associated_with::gene.

Function
This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells that 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 effects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Three alternative transcripts encoding different isoforms have been identified for this gene. A pseudogene that is thought to be related to this gene has been identified on chromosome 10.

Clinical significance
Mutations in the AIFM1 is_associated_with::gene are correlated with Charcot-Marie-Tooth disease (Cowchock syndrome). At a cellular level, AIFM1 mutations result in deficiencies in is_associated_with::oxidative phosphorylation, leading to severe mitochondrial encephalomyopathy. Clinical manifestations of this mutation are characterized by muscular atrophy, neuropathy, is_associated_with::ataxia, psychomotor regression, hearing loss and seizures.

Interactions
AIFM1 has been shown to interact with is_associated_with::HSPA1A.