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AIFM1, apoptosis inducing factor mitochondria associated 1

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AIFM1, apoptosis inducing factor mitochondria associated 1

  • 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]

  • Gene Synonyms (apoptosis-inducing factor 1, mitochondrial, apoptosis-inducing factor, mitochondrion-associated, 1, auditory neuropathy, X-linked recessive 1, programmed cell death 8 (apoptosis-inducing factor), striatal apoptosis-inducing factor, testicular secretory protein Li 4, AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL,)
  • NCBI Gene ID: 9131
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>O95831
    UNIPROT ID#>>E9PMA0
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

apoptosis inducing factor mitochondria associated 1 interacts with:

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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