AIF (AIFM1) (NM_001130846) Human Recombinant Protein

Specifications

Product Data
Species	Human
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) 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	Supplied as a filtered solution of 20mM PB, 150mM NaCl, pH 7.2.
Storage	Store at ≤-70°C, stable for 6 months after receipt.Store at ≤-70°C, stable for 3 months under sterile conditions after opening.Please minimize freeze-thaw cycles.
Stability	Stable for at least 6 months from date of receipt under proper storage and handling conditions.
Endotoxin	< 0.1 EU per µg protein as determined by LAL test
Reference Data
RefSeq
Locus ID	9131
UniProt ID	O95831
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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