AIFM1 Chromosome X
Apoptosis inducing factor mitochondria associated 1
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What This Gene Does
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 Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
Xq26.1
Ensembl
ENSG00000156709
Associated Conditions (24)
Severe X-linked mitochondrial encephalomyopathy
Inborn genetic diseases
Combined oxidative phosphorylation deficiency
Charcot-Marie-Tooth Neuropathy X
AIFM1-related hypomyelination with spondylometaphyseal dysplasia
Spondyloepimetaphyseal dysplasia
Bieganski type
Charcot-Marie-Tooth disease X-linked recessive 4
Deafness
X-linked 5
Intellectual disability
Tip-toe gait
AIFM1-related disorder
Leukodystrophy
Thyroid cancer
nonmedullary
1
Auditory neuropathy
Auditory neuropathy spectrum disorder
Foot dorsiflexor weakness
+4 more conditions
Key Variants
RS1057515767
Conflicting classifications of pathogenicity
Severe X-linked mitochondrial encephalomyopathy, Inborn genetic diseases, Severe X-linked mitochondrial encephalomyopathy
Health Risk
RS1295812149
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
Health Risk
RS138123187
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, Inborn genetic diseases
Health Risk
RS1569418673
Conflicting classifications of pathogenicity
AIFM1-related hypomyelination with spondylometaphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Bieganski type
Health Risk
RS1603223158
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth disease X-linked recessive 4
Health Risk
RS1603224226
Conflicting classifications of pathogenicity
Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease X-linked recessive 4, Severe X-linked mitochondrial encephalomyopathy
Health Risk
RS1603225138
Conflicting classifications of pathogenicity
Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease X-linked recessive 4, Severe X-linked mitochondrial encephalomyopathy
Health Risk
RS184474885
Conflicting classifications of pathogenicity
Deafness, X-linked 5, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS200114054
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
RS201711375
Conflicting classifications of pathogenicity
Inborn genetic diseases, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS201753098
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, Inborn genetic diseases
Health Risk
RS202219398
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked recessive 4, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
Health Risk
All Variants (73)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS724160015 | Health Risk | Likely pathogenic | Deafness, X-linked 5, Deafness |
| RS724160016 | Health Risk | Likely pathogenic | Deafness, X-linked 5, Deafness |
| RS724160018 | Health Risk | Likely pathogenic | Deafness, X-linked 5, Deafness |
| RS724160022 | Health Risk | Likely pathogenic | Deafness, X-linked 5, Combined oxidative phosphorylation deficiency |
| RS724160024 | Health Risk | Likely pathogenic | Deafness, X-linked 5, Deafness |
| RS724160025 | Health Risk | Likely pathogenic | Deafness, X-linked 5, Deafness |
| RS724160026 | Health Risk | Likely pathogenic | Deafness, X-linked 5, Deafness |
| RS863223898 | Health Risk | Likely pathogenic | — |
| RS863225431 | Health Risk | Likely pathogenic | Deafness, X-linked 5, Deafness |
| RS1057516211 | Health Risk | Pathogenic | Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy |
| RS1202786652 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Bieganski type, Spondyloepimetaphyseal dysplasia |
| RS1603223152 | Health Risk | Pathogenic | Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy |
| RS1603224817 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked recessive 4, Charcot-Marie-Tooth disease X-linked recessive 4 |
| RS1603225182 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Bieganski type, Spondyloepimetaphyseal dysplasia |
| RS1603227409 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked recessive 4, Charcot-Marie-Tooth disease X-linked recessive 4 |
| RS2523104459 | Health Risk | Pathogenic | Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder |
| RS2523119113 | Health Risk | Pathogenic | Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy |
| RS377527583 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Bieganski type, Spondyloepimetaphyseal dysplasia |
| RS387906500 | Health Risk | Pathogenic | Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy |
| RS863225432 | Health Risk | Pathogenic | Deafness, X-linked 5, Deafness |
| RS1057518895 | Health Risk | Pathogenic/Likely pathogenic | Foot dorsiflexor weakness, Pes planus, Sensorineural hearing loss disorder |
| RS724160020 | Health Risk | Pathogenic/Likely pathogenic | Deafness, X-linked 5, Combined oxidative phosphorylation deficiency |
| RS724160021 | Health Risk | Pathogenic/Likely pathogenic | Deafness, X-linked 5, Severe X-linked mitochondrial encephalomyopathy |