| Entrez Gene ID | 4047 |
|---|---|
| Official Gene Symbol | LSS (GeneCards) |
| Full name | lanosterol synthase |
| Location | 21q22.3 |
| Other ids | Vega : OTTHUMG00000090633 MIM : 600909 HGNC : HGNC:6708 Ensembl : ENSG00000160285 |
| Other names | OSC, CTRCT44 |
| Summary | 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29940 | 4047 | LSS | 21 | 47628169 | 47628169 | Autism Spectrum Disorders | NextSeq500 |