AIF (AIFM1) (NM_001130846) Human Recombinant Protein
CAT#: TP720244M
Recombinant protein of human apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), transcript variant 4
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Specifications
Product Data | |
Species | Human |
Expression Host | E. coli |
Expression cDNA Clone or AA Sequence |
Glu121-Asp613
|
Tag | N-His |
Predicted MW | 56.2 kDa |
Concentration | lot specific |
Purity | >95% as determined by SDS-PAGE and Coomassie blue staining |
Buffer | Provided lyophilized from a 0.2 μm filtered solution of 20 mM Tris-HCl, 150 mM NaCl |
Endotoxin | < 0.1 EU per µg protein as determined by LAL test |
Reconstitution | Always centrifuge tubes before opening. Do not mix by vortex or pipetting. Dissolve the lyophilized protein in ddH2O. It is not recommended to reconstitute a concentration less than 100 µg/ml. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
Storage | Store at -80°C. |
Stability | Stable for at least 6 months from date of receipt under proper storage and handling conditions. |
Reference Data | |
RefSeq | NP_001124318 |
Locus ID | 9131 |
UniProt ID | O95831, E9PMA0 |
Cytogenetics | Xq26.1 |
Synonyms | AIF; AUNX1; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; NADMR; NAMSD; PDCD8; SEMDHL |
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] |
Protein Families | Druggable Genome, Transmembrane |
Protein Pathways | Apoptosis |
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