FDPS Gene

The FDPS gene (FDPS stands for: Farnesyl Diphosphate Synthase) is a protein coding gene located on chromosome 1q22. The FDPS gene encodes a key enzyme in isoprenoid biosynthesis that catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites, including sterols, dolichols, carotenoids and ubiquinones.

FPP also serves as a substrate for farnesylation and geranylgeranylation of proteins.

FPP catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate and then with the resulting geranyl pyrophosphate to the final product farnesyl pyrophosphate. Farnesyl pyrophosphate is a ligand or agonist for certain hormone and growth receptors.

Drugs that inhibit the enzyme farnesyl diphosphate synthase prevent post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption (Riancho JA et al. 2014). Several pseudogenes have been found on chromosomes 1, 7, 14, 15, 21, and X. Multiple transcript variants encoding different isoforms have been found for this gene.

CliniK: Diseases associated with FDPS include porokeratosis 9 (Li L et al. (2021). Related metabolic pathways include cholesterol biosynthesis I and the bisphosphonate pathway.

1. Li L et al (2021) Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis. Clin Chim Acta 523:441-445.
2. Riancho JA et al (2014) Pharmacogenomics of osteoporotic fractures. Methods Mol Biol 1175:661-70.