catalog number :
MBS8521130
products full name :
AIF-M1 Polyclonal Antibody
products short name :
[AIF-M1]
other names :
[apoptosis-inducing factor 1, mitochondrial isoform AIFsh; Apoptosis-inducing factor 1, mitochondrial; apoptosis-inducing factor 1, mitochondrial; apoptosis inducing factor mitochondria associated 1; Programmed cell death protein 8]
products gene name :
[AIF-M1]
other gene names :
[AIFM1; AIFM1; AIF; CMT2D; CMTX4; COWCK; DFNX5; NADMR; NAMSD; PDCD8; COXPD6; AIF; PDCD8]
image1 heading :
Western Blot
ncbi acc num :
NP_001124318.2
ncbi gb acc num :
NM_001130846.3
ncbi mol weight :
26,033 Da
ncbi pathways :
Apoptosis Pathway (83060); Apoptosis Pathway (470); Apoptosis Modulation By HSP70 Pathway (198877); Ceramide Signaling Pathway (138023)
ncbi summary :
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]
uniprot summary :
Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. In contrast, functions as an antiapoptotic factor in normal mitochondria via its NADH 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.