The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]
Transcription factors with Perturb-seq knockdown data for PMPCA. 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 = PMPCA 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 PMPCA, 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 |
|---|---|---|---|---|
| chr9:136,117,952–136,119,826 | 291.8 kb | Distal (>10kb) Multiome | 931 | |
| chr9:136,132,442–136,133,645 | 277.5 kb | Distal (>10kb) Multiome | 343 | |
| chr9:136,245,219–136,246,310 | 164.8 kb | Distal (>10kb) Multiome | 608 | |
| chr9:136,267,002–136,267,928 | 143.3 kb | Distal (>10kb) Multiome | 459 | |
| chr9:136,327,140–136,327,919 | 83.1 kb | Distal (>10kb) Multiome | 310 | |
| chr9:136,342,464–136,343,245 | 67.7 kb | Distal (>10kb) Multiome | 326 | |
| chr9:136,362,899–136,364,677 | 47.3 kb | Distal (>10kb) Multiome | 969 | |
| chr9:136,399,639–136,400,642 | 10.4 kb | Distal (>10kb) Multiome | 776 | |
| chr9:136,410,307–136,410,943 | 58 bp | At TSS Multiome | 740 | |
| chr9:136,438,826–136,440,227 | 29.2 kb | Distal (>10kb) Multiome | 608 | |
| chr9:136,482,405–136,485,297 | 72.7 kb | Distal (>10kb) Multiome | 938 | |
| chr9:136,545,392–136,547,129 | 135.5 kb | Distal (>10kb) Multiome | 710 | |
| chr9:136,572,053–136,572,865 | 161.7 kb | Distal (>10kb) Multiome | 239 | |
| chr9:136,587,135–136,588,835 | 177.7 kb | Distal (>10kb) Multiome | 453 | |
| chr9:136,626,479–136,627,366 | 216.3 kb | Distal (>10kb) Multiome HiCAR | 451 | |
| chr9:136,665,223–136,666,507 | 255.2 kb | Distal (>10kb) Multiome HiCAR | 409 | |
| chr9:136,686,875–136,688,079 | 276.8 kb | Distal (>10kb) Multiome | 610 |
Genomic view of the PMPCA 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.