GGPS1 Human

GGPS1 catalyzes the trans-addition of three molecules of isopentenyl pyrophosphate (IPP) onto dimethylallyl pyrophosphate (DMAPP) to form GGPP . GGPP is a key precursor for the C20-prenylation of proteins, which is essential for the post-translational modification of proteins, including those in the Ras superfamily of small GTPases . These modifications are critical for the proper functioning of various cellular processes, including signal transduction, cell growth, and differentiation .

The GGPS1 gene is located on chromosome 1q42.3 . It encodes a protein that consists of 300 amino acids and contains five conserved domains typical of prenyltransferases . The enzyme is ubiquitously expressed in various tissues, with the highest expression observed in the heart, skeletal muscle, and testis .

Mutations or dysregulation of the GGPS1 gene have been associated with several diseases, including muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome . The enzyme’s role in the mevalonate/isoprenoid pathway also implicates it in the regulation of lipid synthesis and small GTPase activity, which are fundamental to numerous cellular functions .

Recombinant human GGPS1 is widely used in research to study its function and regulation. It is also utilized in the development of therapeutic strategies targeting the isoprenoid biosynthesis pathway for the treatment of various diseases .