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]
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.
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.
