This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]
Transcription factors with Perturb-seq knockdown data for TIMM8A. 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 = TIMM8A 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 TIMM8A, 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:101,051,311–101,052,275 | 296.8 kb | Distal (>10kb) Multiome | 546 | |
| chrX:101,097,632–101,098,463 | 250.7 kb | Distal (>10kb) Multiome | 508 | |
| chrX:101,348,449–101,349,149 | 128 bp | At TSS Multiome | 567 | |
| chrX:101,354,216–101,354,458 | 5.5 kb | Proximal (<10kb) | 9 | |
| chrX:101,358,096–101,358,605 | 9.4 kb | Proximal (<10kb) | 19 | |
| chrX:101,390,531–101,391,386 | 42.2 kb | Distal (>10kb) Multiome | 762 | |
| chrX:101,407,491–101,408,749 | 59.4 kb | Distal (>10kb) Multiome | 745 | |
| chrX:101,417,975–101,418,807 | 69.7 kb | Distal (>10kb) Multiome | 296 | |
| chrX:101,484,988–101,486,015 | 136.7 kb | Distal (>10kb) Multiome | 155 | |
| chrX:101,550,213–101,551,613 | 201.9 kb | Distal (>10kb) Multiome | 249 | |
| chrX:101,617,258–101,618,125 | 268.9 kb | Distal (>10kb) Multiome | 435 | |
| chrX:101,622,792–101,623,603 | 274.4 kb | Distal (>10kb) Multiome | 410 |
Genomic view of the TIMM8A 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.