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Gene : AIFM1 Homo sapiens

Name  ? apoptosis inducing factor mitochondria associated 1 Cytological Location  Xq26.1
Brief Description  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]
  • synonyms:
  • CMT2D,
  • NM_001130846,
  • NAMSD,
  • apoptosis-inducing factor, mitochondrion-associated, 1,
  • HGNC:8768,
  • AIF,
  • uc004evg.4,
  • apoptosis inducing factor, mitochondria associated 1,
  • DFNX5,
  • COXPD6,
  • AIFM1,
  • PDCD8,
  • programmed cell death 8 (apoptosis-inducing factor),
  • DFNX5,
  • PDCD8,
  • auditory neuropathy, X-linked recessive 1,
  • AIF,
  • AF100928,
  • CMTX4,
  • NAMSD,
  • CMTX4,
  • AUNX1,
  • neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome),
  • AUNX1,
  • OTTHUMG00000022392,
  • COWCK,
  • identifiers:
  • 9131,
  • ENSG00000156709,
  • AIFM1

Genome feature

Region: gene ? Length: 36526  
Location: X:130129362-130165887 reverse strand Cyto location: Xq26.1

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1 Pathways

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Gene -> HPO annotation (Human Phenotype Ontology)

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4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Ontology

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1 Pathways

3753 SN Ps

7 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results