Aliases for AIFM1 Gene
- Apoptosis Inducing Factor Mitochondria Associated 1 2 3 5
- AIF 2 3 4
- Apoptosis-Inducing Factor, Mitochondrion-Associated, 1 2 3
- Programmed Cell Death 8 (Apoptosis-Inducing Factor) 2 3
- Apoptosis-Inducing Factor 1, Mitochondrial 3 4
- Auditory Neuropathy, X-Linked Recessive 1 2 3
- CMTX4 2 3
- DFNX5 2 3
- PDCD8 3 4
- Neuropathy, Axonal, Motor-Sensory With Deafness And Mental Retardation (Cowchock Syndrome) 2
- Apoptosis Inducing Factor, Mitochondria Associated 1 2
External Ids for AIFM1 Gene
Previous HGNC Symbols for AIFM1 Gene
Previous GeneCards Identifiers for AIFM1 Gene
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]
GeneCards Summary for AIFM1 Gene
AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1) is a Protein Coding gene. Diseases associated with AIFM1 include Combined Oxidative Phosphorylation Deficiency 6 and Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia. Among its related pathways are Apoptosis Modulation and Signaling and Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and electron transfer activity. An important paralog of this gene is TXNRD1.
UniProtKB/Swiss-Prot Summary for AIFM1 Gene
Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:20362274, PubMed:23217327, PubMed:17094969). In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA (By similarity). Binds to DNA in a sequence-independent manner (PubMed:27178839). Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis (PubMed:17094969). Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells (PubMed:19418225). In contrast, participates in normal mitochondrial metabolism. Plays an important role in the regulation of respiratory chain biogenesis by interacting with CHCHD4 and controlling CHCHD4 mitochondrial import (PubMed:26004228).
[Isoform 4]: Has NADH oxidoreductase activity. Does not induce nuclear apoptosis.
[Isoform 5]: Pro-apoptotic isoform.