This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]
Transcription factors with Perturb-seq knockdown data for LRPPRC. 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 = LRPPRC 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 LRPPRC, 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 |
|---|---|---|---|---|
| chr2:43,724,902–43,725,564 | 270.7 kb | Distal (>10kb) Multiome | 329 | |
| chr2:43,773,887–43,774,528 | 221.9 kb | Distal (>10kb) Multiome | 682 | |
| chr2:43,995,542–43,996,864 | 208 bp | At TSS Multiome | 909 | |
| chr2:43,996,995–43,997,396 | 1.0 kb | Proximal (<10kb) | 120 | |
| chr2:44,044,245–44,044,695 | 48.4 kb | Distal (>10kb) Multiome | 537 | |
| chr2:44,086,758–44,087,671 | 91.3 kb | Distal (>10kb) Multiome | 648 | |
| chr2:44,167,415–44,169,762 | 172.0 kb | Distal (>10kb) Multiome | 1028 |
Genomic view of the LRPPRC 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.