Aliases for LSS Gene
External Ids for LSS Gene
Previous GeneCards Identifiers for LSS Gene
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]
GeneCards Summary for LSS Gene
LSS (Lanosterol Synthase (2,3-Oxidosqualene-Lanosterol Cyclase)) is a Protein Coding gene. Diseases associated with LSS include Cataract 44 and Hypoplastic Or Aplastic Tibia With Polydactyly. Among its related pathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). GO annotations related to this gene include intramolecular transferase activity and lanosterol synthase activity.
UniProtKB/Swiss-Prot for LSS Gene
Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Through the production of lanosterol may regulate lens protein aggregation and increase transparency.