Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for POLG. 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 = POLG 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 POLG, 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 |
|---|---|---|---|---|
| chr15:89,087,643–89,089,226 | 246.5 kb | Distal (>10kb) Multiome | 898 | |
| chr15:89,243,575–89,244,499 | 90.9 kb | Distal (>10kb) Multiome | 855 | |
| chr15:89,334,096–89,335,852 | 130 bp | At TSS Multiome | 1109 | |
| chr15:89,358,633–89,359,313 | 24.1 kb | Distal (>10kb) Multiome | 569 | |
| chr15:89,367,305–89,368,054 | 32.8 kb | Distal (>10kb) Multiome | 267 | |
| chr15:89,371,087–89,371,852 | 36.7 kb | Distal (>10kb) Multiome | 122 | |
| chr15:89,399,210–89,400,654 | 65.0 kb | Distal (>10kb) Multiome | 464 | |
| chr15:89,407,314–89,408,300 | 73.1 kb | Distal (>10kb) Multiome | 207 | |
| chr15:89,411,338–89,411,946 | 76.8 kb | Distal (>10kb) Multiome | 362 | |
| chr15:89,416,314–89,416,831 | 81.7 kb | Distal (>10kb) Multiome | 411 | |
| chr15:89,430,551–89,431,192 | 96.1 kb | Distal (>10kb) Multiome | 520 | |
| chr15:89,496,217–89,496,744 | 161.6 kb | Distal (>10kb) Multiome | 337 | |
| chr15:89,575,079–89,576,170 | 240.5 kb | Distal (>10kb) Multiome | 805 |
Genomic view of the POLG 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.