Apoptosis Inducing Factor (AIF) causes chromatin condensation and DNA fragmentation. AIF was recently identified, and cloned. Apoptosis is characterized by several morphological nuclear changes including chromatin condensation and nuclear fragmentation. These changes are triggered by the activation of members of caspase family, caspase activated DNase, and several novel proteins. Like the critical molecules, cytochrome c and caspase-9, in apoptosis, AIF localizes in mitochondria. AIF translocates to the nucleus when apoptosis is induced and induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. AIF induces chromatin condensation and large scale DNA fragmentation, which are the hallmarks of apoptosis, of the isolated nucleus and the nucleus in live cells by microinjection and apoptosis stimuli. AIF is highly conserved between human and mouse and widely expressed. Mutations in the AIF gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants of AIF and a related pseudogene has been identified on chromosome 10.
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Protein Aliases: AGR1; Apoptosis-inducing factor 1, mitochondrial; apoptosis-inducing factor, mitochondrion-associated, 1; ERP18; ERP19; hAG-1; harlequin; MGC111425; pcd8; PDIA16; programmed cell death 8 (apoptosis-inducing factor); Programmed cell death protein 8; RP3-438D16.2; striatal apoptosis-inducing factor; testicular secretory protein Li 4; TLP19; UNQ713/PRO1376
Gene Aliases: AIF; AIFM1; AIFsh2; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; Hq; NADMR; NAMSD; PDCD8