Aliases for FDFT1 Gene
External Ids for FDFT1 Gene
Previous GeneCards Identifiers for FDFT1 Gene
This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]
GeneCards Summary for FDFT1 Gene
FDFT1 (Farnesyl-Diphosphate Farnesyltransferase 1) is a Protein Coding gene. Diseases associated with FDFT1 include Squalene Synthase Deficiency and Smith-Lemli-Opitz Syndrome. 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 oxidoreductase activity and farnesyl-diphosphate farnesyltransferase activity.
UniProtKB/Swiss-Prot Summary for FDFT1 Gene
Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with concomitant release of a proton and a molecule of inorganic diphosphate. In the second half-reaction, PSQPP undergoes heterolysis, isomerization, and reduction with NADPH or NADH to form squalene. It is the first committed enzyme of the sterol biosynthesis pathway.