This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for PHYH. 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 = PHYH 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 PHYH, 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 |
|---|---|---|---|---|
| chr10:13,000,971–13,001,949 | 301.0 kb | Distal (>10kb) Multiome | 227 | |
| chr10:13,099,052–13,100,750 | 203.2 kb | Distal (>10kb) Multiome | 675 | |
| chr10:13,120,751–13,121,780 | 181.2 kb | Distal (>10kb) Multiome | 155 | |
| chr10:13,161,059–13,162,040 | 140.9 kb | Distal (>10kb) Multiome HiCAR | 746 | |
| chr10:13,299,293–13,300,384 | 2.4 kb | Proximal (<10kb) Multiome | 850 | |
| chr10:13,302,089–13,302,853 | 2 bp | At TSS Multiome | 807 | |
| chr10:13,347,195–13,348,918 | 45.7 kb | Distal (>10kb) Multiome | 753 | |
| chr10:13,349,410–13,350,393 | 47.5 kb | Distal (>10kb) Multiome | 432 | |
| chr10:13,351,365–13,351,877 | 49.1 kb | Distal (>10kb) Multiome | 105 | |
| chr10:13,440,173–13,440,755 | 138.1 kb | Distal (>10kb) Multiome | 414 | |
| chr10:13,528,519–13,529,578 | 226.7 kb | Distal (>10kb) Multiome | 267 | |
| chr10:13,586,728–13,587,229 | 284.5 kb | Distal (>10kb) Multiome | 812 |
Genomic view of the PHYH 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.