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) is a Protein Coding gene. Diseases associated with LSS include Cataract 44 and Hypotrichosis 14. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Gene Ontology (GO) annotations related to this gene include intramolecular transferase activity and lanosterol synthase activity.
UniProtKB/Swiss-Prot Summary for LSS Gene
Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:7639730, PubMed:26200341). Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341).