Dehydrodolichyl diphosphate synthase

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.

Clinical significance

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.

References

References

1. (Feb 2003). "Identification of human dehydrodolichyl diphosphate synthase gene". Biochim Biophys Acta.
2. "Entrez Gene: DHDDS dehydrodolichyl diphosphate synthase".
3. (February 2011). "A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews". Am. J. Hum. Genet..
4. (September 2009). "CDG nomenclature: time for a change!". Biochim. Biophys. Acta.
5. (May 2012). "Neurology of inherited glycosylation disorders". Lancet Neurol..