Function
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.
Biological Context
Subcellular Location: Endoplasmic reticulum membrane (Multi-pass membrane protein)
Tissue Specificity: Widely expressed
Disease Association: Squalene synthase deficiency (SQSD) : An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids. [The disease is caused by variants affecting the gene represented in this entry]
Pathway: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 1/3
Product Specifications
Mouse anti-Human sapiens (Human) FDFT1 Monoclonal Antibody is a recombinant protein. Suitable for ELISA and Western Blot applications. Explore more Antibody products →
