This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for DHCR24. 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 = DHCR24 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 DHCR24, 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 |
|---|---|---|---|---|
| chr1:53,220,162–53,220,983 | 1666.6 kb | Distal (>10kb) Multiome HiCAR | 1003 | |
| chr1:54,715,256–54,716,151 | 171.4 kb | Distal (>10kb) Multiome | 918 | |
| chr1:54,764,040–54,765,112 | 122.5 kb | Distal (>10kb) Multiome | 791 | |
| chr1:54,775,004–54,775,454 | 111.9 kb | Distal (>10kb) Multiome | 135 | |
| chr1:54,781,116–54,781,700 | 105.8 kb | Distal (>10kb) Multiome | 190 | |
| chr1:54,800,637–54,801,431 | 86.0 kb | Distal (>10kb) Multiome | 286 | |
| chr1:54,886,423–54,888,260 | 98 bp | At TSS Multiome | 867 | |
| chr1:54,950,380–54,951,143 | 63.6 kb | Distal (>10kb) Multiome | 459 | |
| chr1:54,980,478–54,981,190 | 93.6 kb | Distal (>10kb) Multiome | 185 | |
| chr1:54,996,310–54,996,725 | 109.5 kb | Distal (>10kb) Multiome | 355 | |
| chr1:55,021,822–55,022,741 | 135.0 kb | Distal (>10kb) Multiome | 538 | |
| chr1:55,039,084–55,041,196 | 152.4 kb | Distal (>10kb) Multiome | 743 |
Genomic view of the DHCR24 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.