7994767422ENSG00000117682ENSMUSG00000012117Q86SQ9Q99KU1NM_001243564NM_001243565NM_024887NM_205861NM_001319959NM_026144NP_001230493NP_001230494NP_001306888NP_079163NP_995583NP_080420NP_001349888NP_001349889NP_001349890NP_001349891Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene.

[5][6] 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] 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.