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Gene: AIFM1 (apoptosis inducing factor mitochondria associated 1) Homo sapiens
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Symbol: AIFM1
Name: apoptosis inducing factor mitochondria associated 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIF; apoptosis inducing factor, mitochondria associated 1; apoptosis-inducing factor 1, mitochondrial; apoptosis-inducing factor, mitochondrion-associated, 1; auditory neuropathy, X-linked recessive 1; AUNX1; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; MGC111425; NADMR; NAMSD; Neuropathy, axonal motor-sensory, with deafness and mental retardation; neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome); PDCD8; programmed cell death 8 (apoptosis-inducing factor); striatal apoptosis-inducing factor; testicular secretory protein Li 4
Orthologs:
Related Pseudogenes: AIFM1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X130,129,362 - 130,165,887 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,263,337 - 129,299,861 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,091,018 - 129,127,489 (-)NCBINCBI36hg18NCBI36
Build 34X128,988,871 - 129,025,343NCBI
CeleraX129,649,901 - 129,686,423 (-)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,659,694 - 118,695,647 (-)NCBIHuRef
CHM1_1X129,174,949 - 129,211,491 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on AIFM1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731380
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.