This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for PEX7. 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 = PEX7 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 PEX7, 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 |
|---|---|---|---|---|
| chr6:136,526,121–136,527,142 | 296.3 kb | Distal (>10kb) Multiome | 235 | |
| chr6:136,549,356–136,551,131 | 272.3 kb | Distal (>10kb) Multiome | 722 | |
| chr6:136,791,271–136,793,463 | 29.9 kb | Distal (>10kb) Multiome | 880 | |
| chr6:136,816,582–136,817,062 | 5.5 kb | Proximal (<10kb) | 15 | |
| chr6:136,822,046–136,823,437 | 143 bp | At TSS Multiome | 679 | |
| chr6:136,920,717–136,924,225 | 100.8 kb | Distal (>10kb) Multiome | 498 | |
| chr6:136,956,824–136,957,720 | 134.3 kb | Distal (>10kb) Multiome | 256 | |
| chr6:136,989,383–136,990,306 | 166.9 kb | Distal (>10kb) Multiome | 295 | |
| chr6:137,001,359–137,002,211 | 179.0 kb | Distal (>10kb) Multiome | 208 | |
| chr6:137,044,029–137,045,166 | 221.6 kb | Distal (>10kb) Multiome | 428 |
Genomic view of the PEX7 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.