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AIF (AIFM1) (NM_145812) Human Recombinant Protein

Product Specifications

Background

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]

Overview

Recombinant protein of human apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 2

Synonyms

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

Gene ID

9131

UniProt

O95831

Accession Number mRNA

NM_145812

Chromosomal Location

Xq26.1

Expression System

HEK293T

Tag

C-Myc/DDK

Related Pathways

Apoptosis

Field of Research

Apoptosis

Concentration

>50 ug/mL as determined by microplate BCA method

Purity

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

Form

Liquid

Buffer

25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

Function

Druggable Genome, Transmembrane

Molecular Weight

66.1 kDa

Storage Conditions

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

Symbol

AIFM1

Species

Human

Protein ID

NP_665811

Gene ID URL

https://www.ncbi.nlm.nih.gov/gene/9131

Uniprot URL

https://www.uniprot.org/uniprot/O95831

Accession Number mRNA URL

https://www.ncbi.nlm.nih.gov/nuccore/NM_145812

Protein ID Link

https://www.ncbi.nlm.nih.gov/nuccore/NP_665811

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