Dehydrodolichyl diphosphate synthase
Template:Short description Template:Infobox gene Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene.[1][2]
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.[2]
Clinical significance
It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa.[3] 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).[4] Many CDG subtypes present with retinitis pigmentosa as a major feature.[5]
References
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Further reading
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External links
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