AIFM1 Antibody – Rabbit Polyclonal

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. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

PDCD8: Probable oxidoreductase that has a dual role in controlling cellular life and death; during apoptosis, it is translocated from the mitochondria to the nucleus to function as a proapoptotic factor in a caspase-independent pathway, while in normal mitochondria, it functions as an antiapoptotic factor via its oxidoreductase activity. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e., caspase-independent fragmentation of chromosomal DNA. Interacts with EIF3G,and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 to amplify apoptosis. Plays a critical role in caspase- independent, pyknotic cell death in hydrogen peroxide-exposed cells. Binds to DNA in a sequence-independent manner. Interacts with XIAP/BIRC4. Interacts (via N-terminus) with EIF3G (via C-terminus). Belongs to the FAD-dependent oxidoreductase family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.-.-.-; Mitochondrial; Oxidoreductase; Apoptosis

Chromosomal Location of Human Ortholog: Xq26.1

Cellular Component: mitochondrion; perinuclear region of cytoplasm; mitochondrial inner membrane; mitochondrial intermembrane space; cytosol; nucleus

Molecular Function: protein dimerization activity; protein binding; oxidoreductase activity, acting on NADH or NADPH; electron carrier activity; DNA binding; NAD(P)H oxidase activity

Biological Process: neuron differentiation; chromosome condensation; caspase activation; mitochondrial respiratory chain complex I assembly; neuron apoptosis; cell redox homeostasis; apoptosis; positive regulation of apoptosis; DNA fragmentation during apoptosis; DNA catabolic process

Disease: Cowchock Syndrome