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]
Transcription factors with Perturb-seq knockdown data for AIFM1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = AIFM1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of AIFM1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chrX:129,905,717–129,906,258 | 259.8 kb | Distal (>10kb) Multiome | 664 | |
| chrX:129,931,017–129,933,134 | 233.5 kb | Distal (>10kb) Multiome | 620 | |
| chrX:129,957,138–129,957,761 | 208.4 kb | Distal (>10kb) Multiome | 491 | |
| chrX:129,961,005–129,961,747 | 204.4 kb | Distal (>10kb) Multiome | 424 | |
| chrX:129,982,008–129,982,922 | 183.3 kb | Distal (>10kb) Multiome | 614 | |
| chrX:129,984,009–129,984,684 | 181.5 kb | Distal (>10kb) Multiome | 240 | |
| chrX:130,060,034–130,061,017 | 105.3 kb | Distal (>10kb) Multiome | 583 | |
| chrX:130,120,389–130,121,207 | 45.0 kb | Distal (>10kb) Multiome | 517 | |
| chrX:130,165,452–130,166,368 | 85 bp | At TSS Multiome | 754 | |
| chrX:130,170,895–130,171,447 | 5.2 kb | Proximal (<10kb) Multiome | 203 | |
| chrX:130,268,321–130,269,066 | 102.9 kb | Distal (>10kb) Multiome | 738 | |
| chrX:130,339,460–130,340,239 | 174.0 kb | Distal (>10kb) Multiome | 548 |
Genomic view of the AIFM1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.