Dehydrodolichyl diphosphate synthase

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. Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene. 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. It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of 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 congenital disorder of glycosylation (and named DHDDS-CDG according to the novel nomenclature of CDGs). Many CDG subtypes present with retinitis pigmentosa as a major feature.