The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Transcription factors with Perturb-seq knockdown data for HSD17B4. 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 = HSD17B4 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 HSD17B4, 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 |
|---|---|---|---|---|
| chr5:118,987,706–118,989,045 | 464.0 kb | Distal (>10kb) Multiome HiCAR | 941 | |
| chr5:119,255,677–119,256,535 | 196.4 kb | Distal (>10kb) Multiome | 184 | |
| chr5:119,267,854–119,269,617 | 183.8 kb | Distal (>10kb) Multiome | 918 | |
| chr5:119,316,153–119,316,863 | 136.0 kb | Distal (>10kb) Multiome | 112 | |
| chr5:119,354,971–119,356,548 | 96.6 kb | Distal (>10kb) Multiome | 521 | |
| chr5:119,409,419–119,410,763 | 42.2 kb | Distal (>10kb) Multiome | 149 | |
| chr5:119,445,650–119,445,886 | 6.6 kb | Proximal (<10kb) | 37 | |
| chr5:119,452,092–119,453,354 | 116 bp | At TSS Multiome | 894 | |
| chr5:119,458,847–119,459,725 | 6.4 kb | Proximal (<10kb) | 180 | |
| chr5:119,470,201–119,470,844 | 18.1 kb | Distal (>10kb) Multiome | 179 | |
| chr5:119,480,236–119,481,736 | 28.5 kb | Distal (>10kb) Multiome | 177 | |
| chr5:120,463,870–120,466,160 | 1011.7 kb | Distal (>10kb) Multiome HiCAR | 594 |
Genomic view of the HSD17B4 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.