AIF Rabbit mAb (AMR12972N)

CAT: 0882-AMR12972N-01Size: 50 µLDry Ice: NoHazardous: No

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CAT#:0882-AMR12972N-01Size:50 µL

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24/48H Stock Items & 2 to 6 Weeks non Stock Items.

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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 mental retardation. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

Overview

We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality AIF Rabbit mAb (APR24493N6) .

Synonyms

AIF; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; NADMR; NAMSD; PDCD8; AIFM1

Gene ID

9131

UniProt

O95831

Applications

WB (Homo sapiens)

Dilution

WB 1:500 - 1:2000 IHC 1:50 - 1:200

Form

Liquid

Buffer

Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3.

Molecular Weight

Calculated MW: 67kDa Observed MW: 67KDa

Storage Conditions

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

Gene ID URL

https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9131

Uniprot URL

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

AA Sequence

Email for sequence

UniProtKB · O95831

Apoptosis-inducing factor 1, mitochondrial

AIFM1_HUMAN · Homo sapiens

View on UniProt ↗

Primary accession: O95831
Review status: UniProtKB reviewed (Swiss-Prot)
Gene: AIFM1
Protein existence: 1: Evidence at protein level
Organism: Homo sapiens (Human)
Taxonomy ID: 9606
Alternative names: —
EC number: 1.6.99.-
Processing: Precursor
Secondary accessions: A4QPB4, B1ALN1, B2RB08, D3DTE9, E9PRR0, Q1L6K4, Q1L6K6, Q2QKE4, Q5JUZ7, Q6I9X6, Q9Y3I3, Q9Y3I4

Protein keywords

Technical term

3D-structureDirect protein sequencingProteomics identificationReference proteome

PTM

AcetylationIsopeptide bondPhosphoproteinUbl conjugation

Coding sequence diversity

Alternative splicing

Biological process

Apoptosis

Disease

Charcot-Marie-Tooth diseaseDeafnessDisease variantDwarfismIntellectual disabilityNeurodegenerationNeuropathyPrimary mitochondrial disease

Cellular component

CytoplasmMembraneMitochondrionMitochondrion inner membraneNucleus

Molecular function

DNA-bindingOxidoreductase

Ligand

FADFlavoproteinNAD

Domain

Transit peptide

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