产品概述：Recombinant protein of human apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1

蛋白长度：Recombinant protein was produced with GoldORF clone, [GH53220V]. Click on the GoldORF clone link to view cDNA and protein sequences.

表达系统：HEK293T

种属：Human

标签类型：C-Myc/DDK

分子量：66.7 kDa

通用名：AIFM1

总结：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]

形式：Liquid

浓度：>50 ug/mL as determined by microplate BCA method

纯度：> 80% as determined by SDS-PAGE and Coomassie blue staining

储存溶液：25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

别名：AIF; AUNX1; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; NADMR; NAMSD; PDCD8; SEMDHL