CPRiL

AIFM1

apoptosis inducing factor mitochondria associated 1

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 cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

• apoptosis-inducing factor 1, mitochondrial
• apoptosis-inducing factor, mitochondrion-associated, 1
• auditory neuropathy, X-linked recessive 1
programmed cell death 8 (apoptosis-inducing factor)
striatal apoptosis-inducing factor
testicular secretory protein Li 4
AIF
AUNX1
CMT2D
CMTX4
COWCK
COXPD6
DFNX5
NADMR
NAMSD
PDCD8
SEMDHL