This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for CYP46A1. 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 = CYP46A1 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 CYP46A1, 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 |
|---|---|---|---|---|
| chr14:99,479,847–99,482,007 | 203.1 kb | Distal (>10kb) Multiome | 803 | |
| chr14:99,602,979–99,605,771 | 79.9 kb | Distal (>10kb) Multiome | 993 | |
| chr14:99,663,812–99,664,749 | 20.0 kb | Distal (>10kb) Multiome | 215 | |
| chr14:99,682,774–99,684,994 | 116 bp | At TSS Multiome | 763 | |
| chr14:99,687,695–99,688,020 | 3.4 kb | Proximal (<10kb) | 86 | |
| chr14:99,729,847–99,731,033 | 46.0 kb | Distal (>10kb) Multiome | 551 | |
| chr14:99,792,691–99,793,898 | 109.1 kb | Distal (>10kb) Multiome | 378 | |
| chr14:99,971,046–99,972,540 | 287.2 kb | Distal (>10kb) Multiome | 614 |
Genomic view of the CYP46A1 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.