AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1) is a Protein Coding gene. Diseases associated with AIFM1 include Combined Oxidative Phosphorylation Deficiency 6 and Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Ceramide signaling pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and electron transfer activity. An important paralog of this gene is AIFM3.
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These AIFM1 antibodies are validated in multiple tissues with various applications and covering a broad range of life science research and drug development. They are featured with high specificity, multiple epitopes recognition, and wide species reactivity. Moreover, CUSABIO provides various options on sizes, excellent technical support and AIFM1 antibodies custom service.
AIFM1 Antibodies for Homo sapiens (Human)
|Code||Product Name||Species Reactivity||Application|
|CSB-PA001492HA01HU||Human||ELISA, WB, IHC, IF|
|CSB-PA000836||Human,Mouse,Rat||WB, IHC, IF, ELISA|
The AIFM1 gene encodes a flavoprotein, apoptosis-inducing factor, mitochondrion-associated 1(AIFM1), which is involved in apoptosis, mitochondrial function, ROS production and neurodegeneration . AIFM1 is found in the mitochondrial intermembrane space in healthy cells. As an NADH oxidase with a local redox function, AIFM1 is essential for optimal oxidative phosphorylation and efficient antioxidant defense . Lack of AIFM1 leads to neurodegeneration, skeleton muscle atrophy, and dilated cardiomyopathy . In response to apoptotic stimuli, AIFM1 is released from mitochondria and translocates to the nucleus, where it triggers chromatin condensation and large-scale DNA degradation in a caspase-independent manner. Both of these are nuclear features of apoptosis. Besides, AIFM1 induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9 . The nuclear localization of AIFM1 can be inhibited by blocking upstream signals of apoptosis. Evidence suggests that the redox-active enzymatic region of AIFM1 may be antiapoptotic while the DNA binding region is proapoptotic . Zong et al. found that the AIFM1 gene ubiquitously expressed in the mouse inner ear, especially in the cytoplasm of inner ＆ outer hair cells and spiral ganglion neurons, which is consistent with its role in normal auditory function . Mutations in the AIFM1 gene cause combined oxidative phosphorylation deficiency 6 (COXPD6) , severe mitochondrial encephalomyopathy. Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4) is also associated with AIFM1 mutations . This disorder results in neuropathy and axonal ＆ motor-sensory defects, accompanied by deafness and cognitive disability.
 Polster BM. AIF, reactive oxygen species, and neurodegeneration: a "complex" problem [J]. Neurochem Int 2013; 62: 695-702.
 Modjtahedi N., Giordanetto F., et al. Apoptosis-inducing factor: Vital and lethal [J]. Trends Cell Biol. 2006; 16: 264-272.
 Granville DJ, Cassidy BA, et al. Mitochondrial release of apoptosis-inducing factor and cytochrome c during smooth muscle cell apoptosis [J]. Am J Pathol. 2001 Jul;159(1):305-11.
 Lipton SA, Bossy-Wetzel E. Dueling activities of AIF in cell death versus survival: DNA binding and redox activity [J]. Cell. 2002 Oct 18;111(2):147-50.
 Zong, L., Guan, J., et al. Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder [J]. J. Med. Genet. 2015, 52: 523-531.
 Kettwig M, Schubach M, et al. From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1 [J]. Mitochondrion 2015; 21C: 12-8.
 Rinaldi C, Grunseich C, et al. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor [J]. Am J Hum Genet 2012; 91: 1095-1102.