调亡诱导因子抗体

调亡诱导因子抗体 Background: 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]. Also known as: Apoptosis inducing factor; Harlequin; Hq; mAIF; MGC111425; MGC5706; PDCD 8; PDCD8; Programmed cell death 8; Programmed cell death 8 isoform 1; Programmed cell death 8 isoform 2; Programmed cell death 8 isoform 3; Programmed cell death protein 8 mitochondrial; Programmed cell death protein 8 mitochondrial precursor; Striatal apoptosis inducing factor; AIFM1_HUMAN; Apoptosis-inducing factor 1, mitochondrial.