Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: AIFM1 (apoptosis inducing factor mitochondria associated 1) Homo sapiens
Analyze
Symbol: AIFM1
Name: apoptosis inducing factor mitochondria associated 1
Description: Exhibits oxidoreductase activity, acting on NAD(P)H. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; mitochondrial respiratory chain complex I assembly; and neuron differentiation. Localizes to the mitochondrial intermembrane space and nucleus. Implicated in Charcot-Marie-Tooth disease X-linked recessive 4; X-linked nonsyndromic deafness; and combined oxidative phosphorylation deficiency. Biomarker of Alzheimer's disease and dilated cardiomyopathy 1H.
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)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

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

RGD Object Information
RGD ID: 731380
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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