The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]
Transcription factors with Perturb-seq knockdown data for LSS. 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 = LSS 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 LSS, 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 |
|---|---|---|---|---|
| chr21:45,970,520–45,971,289 | 258.0 kb | Distal (>10kb) Multiome | 325 | |
| chr21:45,973,174–45,975,630 | 254.8 kb | Distal (>10kb) Multiome | 597 | |
| chr21:45,981,076–45,982,605 | 247.2 kb | Distal (>10kb) Multiome | 580 | |
| chr21:46,097,574–46,098,972 | 130.7 kb | Distal (>10kb) Multiome | 294 | |
| chr21:46,153,138–46,153,696 | 75.3 kb | Distal (>10kb) Multiome | 515 | |
| chr21:46,184,645–46,185,202 | 44.1 kb | Distal (>10kb) Multiome | 334 | |
| chr21:46,227,917–46,228,108 | 659 bp | At TSS | 123 | |
| chr21:46,228,249–46,230,022 | 212 bp | At TSS Multiome | 833 | |
| chr21:46,285,753–46,286,753 | 57.6 kb | Distal (>10kb) Multiome | 983 | |
| chr21:46,323,408–46,325,506 | 95.3 kb | Distal (>10kb) Multiome | 952 | |
| chr21:46,457,952–46,459,810 | 230.0 kb | Distal (>10kb) Multiome | 880 |
Genomic view of the LSS 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.