AIFM1

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, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010]

Description

apoptosis-inducing factor, mitochondrion-associated, 1

Protein family

Membrane proteins predicted by MDM

Chromosome

X:q26.1 (129263337 - 129299861)

Ensembl ID

ENSG00000156709  (ver. 69.37)

Orthologs

Mouse Aifm1: ENSMUSG00000036932

Human splice variants
Mouse splice variants