This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for PPOX. 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 = PPOX 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 PPOX, 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 |
|---|---|---|---|---|
| chr1:160,910,331–160,911,177 | 255.7 kb | Distal (>10kb) Multiome | 97 | |
| chr1:160,947,055–160,947,669 | 219.0 kb | Distal (>10kb) Multiome | 35 | |
| chr1:160,948,561–160,949,851 | 217.0 kb | Distal (>10kb) Multiome | 173 | |
| chr1:160,981,323–160,982,552 | 184.6 kb | Distal (>10kb) Multiome | 156 | |
| chr1:161,020,536–161,021,920 | 145.2 kb | Distal (>10kb) Multiome | 846 | |
| chr1:161,038,489–161,039,130 | 127.5 kb | Distal (>10kb) Multiome | 468 | |
| chr1:161,045,080–161,046,516 | 120.4 kb | Distal (>10kb) Multiome | 927 | |
| chr1:161,097,691–161,099,047 | 68.1 kb | Distal (>10kb) Multiome | 829 | |
| chr1:161,117,504–161,118,419 | 48.3 kb | Distal (>10kb) Multiome | 794 | |
| chr1:161,131,760–161,133,351 | 33.7 kb | Distal (>10kb) Multiome | 956 | |
| chr1:161,153,700–161,154,461 | 12.4 kb | Distal (>10kb) Multiome | 816 | |
| chr1:161,158,928–161,160,167 | 6.9 kb | Proximal (<10kb) Multiome | 706 | |
| chr1:161,165,740–161,167,170 | 67 bp | At TSS Multiome | 888 | |
| chr1:161,176,874–161,177,972 | 11.1 kb | Distal (>10kb) Multiome | 910 | |
| chr1:161,198,215–161,199,209 | 32.1 kb | Distal (>10kb) Multiome | 357 | |
| chr1:161,201,572–161,202,783 | 35.9 kb | Distal (>10kb) Multiome | 852 | |
| chr1:161,225,326–161,226,910 | 59.5 kb | Distal (>10kb) Multiome | 710 | |
| chr1:161,227,235–161,227,802 | 61.1 kb | Distal (>10kb) Multiome | 372 | |
| chr1:161,258,515–161,259,098 | 92.4 kb | Distal (>10kb) Multiome | 281 | |
| chr1:161,305,737–161,306,708 | 139.9 kb | Distal (>10kb) Multiome | 430 | |
| chr1:161,313,977–161,314,703 | 147.9 kb | Distal (>10kb) Multiome | 824 | |
| chr1:161,389,675–161,390,784 | 223.7 kb | Distal (>10kb) Multiome | 866 | |
| chr1:161,399,098–161,400,259 | 233.2 kb | Distal (>10kb) Multiome | 1040 |
Genomic view of the PPOX 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.