Recombinant AIFM1 Monoclonal Antibody

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 mental retardation. Alternative splicing results in multiple transcript variants.

CMTX; DFNX; PDCD; AIFM; Programmed Cell Death Protein; COXPD; AIF; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; NADMR; NAMSD; PDCD8; AIFM1; Apoptosis-Inducing Factor 1 Mitochondrial; Programmed Cell Death Protein 8; Apoptosis inducing factor; Apoptosis inducing factor 1; Apoptosis-inducing factor 1; axonal; axonal motor-sensory; Harlequin; mAIF; MGC111425; MGC5706; mitochondrial; mitochondrion associated; motor-sensory with deafness and mental retardation (Cowchock syndrome) ; Neuropathy; PDCD 8; Programmed Cell Death 8; Programmed cell death 8 (apoptosis inducing factor) ; 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; with deafness and mental retardation