Biology:Dehydrodolichyl diphosphate synthase
 Generic protein structure example |
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
- ↑ "Identification of human dehydrodolichyl diphosphate synthase gene". Biochim Biophys Acta 1625 (3): 291–5. Feb 2003. doi:10.1016/S0167-4781(02)00628-0. PMID 12591616.
- ↑ 2.0 2.1 "Entrez Gene: DHDDS dehydrodolichyl diphosphate synthase". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79947.
- ↑ "A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews". Am. J. Hum. Genet. 88 (2): 207–15. February 2011. doi:10.1016/j.ajhg.2011.01.002. PMID 21295282.
- ↑ "CDG nomenclature: time for a change!". Biochim. Biophys. Acta 1792 (9): 825–6. September 2009. doi:10.1016/j.bbadis.2009.08.005. PMID 19765534.
- ↑ "Neurology of inherited glycosylation disorders". Lancet Neurol. 11 (5): 453–66. May 2012. doi:10.1016/S1474-4422(12)70040-6. PMID 22516080.
Further reading
- "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "Polyprenyl lipid synthesis in mammalian cells expressing human cis-prenyl transferase.". Biochem. Biophys. Res. Commun. 331 (2): 379–83. 2005. doi:10.1016/j.bbrc.2005.03.181. PMID 15850770.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system.". Biochem. Biophys. Res. Commun. 318 (1): 198–203. 2004. doi:10.1016/j.bbrc.2004.04.007. PMID 15110773.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells.". Biochem. Biophys. Res. Commun. 312 (4): 1349–56. 2004. doi:10.1016/j.bbrc.2003.11.065. PMID 14652022.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
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