This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]
Transcription factors with Perturb-seq knockdown data for PYROXD1. 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 = PYROXD1 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 PYROXD1, 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 |
|---|---|---|---|---|
| chr12:21,369,286–21,369,990 | 68.2 kb | Distal (>10kb) Multiome | 118 | |
| chr12:21,430,103–21,430,275 | 7.6 kb | Proximal (<10kb) | 19 | |
| chr12:21,433,692–21,433,845 | 4.1 kb | Proximal (<10kb) | 17 | |
| chr12:21,437,461–21,438,474 | 127 bp | At TSS Multiome | 804 | |
| chr12:21,500,928–21,502,428 | 63.8 kb | Distal (>10kb) Multiome | 804 | |
| chr12:21,527,079–21,528,319 | 89.9 kb | Distal (>10kb) Multiome | 422 | |
| chr12:21,656,935–21,658,449 | 220.0 kb | Distal (>10kb) Multiome | 715 |
Genomic view of the PYROXD1 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.