The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for PNPO. 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 = PNPO 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 PNPO, 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 |
|---|---|---|---|---|
| chr17:47,648,863–47,650,987 | 291.9 kb | Distal (>10kb) Multiome | 1152 | |
| chr17:47,693,705–47,695,210 | 247.1 kb | Distal (>10kb) Multiome | 619 | |
| chr17:47,733,002–47,733,810 | 208.3 kb | Distal (>10kb) Multiome | 366 | |
| chr17:47,789,633–47,790,336 | 151.5 kb | Distal (>10kb) Multiome | 395 | |
| chr17:47,831,256–47,831,955 | 109.9 kb | Distal (>10kb) Multiome | 856 | |
| chr17:47,840,790–47,841,702 | 100.2 kb | Distal (>10kb) Multiome | 833 | |
| chr17:47,847,253–47,848,429 | 93.7 kb | Distal (>10kb) Multiome | 193 | |
| chr17:47,850,617–47,851,614 | 90.3 kb | Distal (>10kb) Multiome | 694 | |
| chr17:47,895,361–47,896,955 | 45.4 kb | Distal (>10kb) Multiome | 1031 | |
| chr17:47,941,283–47,941,880 | 13 bp | At TSS Multiome | 958 | |
| chr17:47,947,045–47,947,208 | 5.5 kb | Proximal (<10kb) | 348 | |
| chr17:47,949,340–47,949,590 | 7.8 kb | Proximal (<10kb) | 532 | |
| chr17:47,970,487–47,971,547 | 29.5 kb | Distal (>10kb) Multiome | 1061 | |
| chr17:48,023,351–48,024,470 | 82.1 kb | Distal (>10kb) Multiome | 591 | |
| chr17:48,024,599–48,025,777 | 83.8 kb | Distal (>10kb) Multiome | 759 | |
| chr17:48,026,284–48,026,933 | 85.2 kb | Distal (>10kb) Multiome | 543 | |
| chr17:48,047,576–48,049,198 | 106.8 kb | Distal (>10kb) Multiome | 1134 | |
| chr17:48,053,836–48,055,155 | 113.0 kb | Distal (>10kb) Multiome | 327 | |
| chr17:48,055,581–48,056,000 | 114.4 kb | Distal (>10kb) Multiome | 337 | |
| chr17:48,100,593–48,101,963 | 159.9 kb | Distal (>10kb) Multiome | 974 | |
| chr17:48,107,198–48,108,007 | 166.1 kb | Distal (>10kb) Multiome | 841 | |
| chr17:48,160,363–48,161,134 | 219.2 kb | Distal (>10kb) Multiome | 299 |
Genomic view of the PNPO 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.