Dehydrodolichyl diphosphate synthase

Dehydrodolichyl diphosphate synthase is an is_associated_with::enzyme that in humans is encoded by the DHDDS is_associated_with::gene.

Function
Dehydrodolichyl diphosphate (dedol-PP) synthase catalyzes cis-is_associated_with::prenyl chain elongation to produce the polyprenyl backbone of is_associated_with::dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of is_associated_with::glycoproteins.

Clinical significance
It has been suggested that is_associated_with::missense mutations in the DHDDS gene are responsible for certain variants of is_associated_with::retinitis pigmentosa. 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 is_associated_with::congenital disorder of glycosylation (and namned DHDDS-CDG according to the novel nomenclature of CDGs). Interestingly, many CDG subtypes present with is_associated_with::retinitis pigmentosa as a major feature.