Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDSgene.[5][6]
Function
Dehydrodolichyl diphosphate (dedol-PP) synthase catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins.[6]
Clinical significance
It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa.[7] Since it is involved in the early steps of dolichol synthesis, vital e.g. for correct N-glycosylation, a disease caused by mutations in DHDDS should be considered a congenital disorder of glycosylation (and named DHDDS-CDG according to the novel nomenclature of CDGs).[8] Many CDG subtypes present with retinitis pigmentosa as a major feature.[9]
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID16189514.
Jones J, Viswanathan K, Krag SS, Betenbaugh MJ (2005). "Polyprenyl lipid synthesis in mammalian cells expressing human cis-prenyl transferase". Biochem. Biophys. Res. Commun. 331 (2): 379–83. doi:10.1016/j.bbrc.2005.03.181. PMID15850770.
Kharel Y, Takahashi S, Yamashita S, Koyama T (2004). "In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system". Biochem. Biophys. Res. Commun. 318 (1): 198–203. doi:10.1016/j.bbrc.2004.04.007. PMID15110773.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Shridas P, Rush JS, Waechter CJ (2004). "Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells". Biochem. Biophys. Res. Commun. 312 (4): 1349–56. doi:10.1016/j.bbrc.2003.11.065. PMID14652022.
