This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
Transcription factors with Perturb-seq knockdown data for DHCR7. 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 = DHCR7 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 DHCR7, 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 |
|---|---|---|---|---|
| chr11:71,246,399–71,246,829 | 201.8 kb | Distal (>10kb) Multiome | 102 | |
| chr11:71,251,249–71,252,925 | 196.5 kb | Distal (>10kb) Multiome | 518 | |
| chr11:71,447,762–71,449,172 | 72 bp | At TSS Multiome | 802 | |
| chr11:71,451,905–71,452,114 | 3.8 kb | Proximal (<10kb) | 51 | |
| chr11:71,452,706–71,453,785 | 4.8 kb | Proximal (<10kb) Multiome | 636 | |
| chr11:71,487,897–71,488,597 | 39.9 kb | Distal (>10kb) Multiome | 181 | |
| chr11:71,607,766–71,608,303 | 159.5 kb | Distal (>10kb) Multiome | 13 |
Genomic view of the DHCR7 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.