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词条 Dehydrodolichyl diphosphate synthase
释义

  1. Function

  2. Clinical significance

  3. References

  4. Further reading

  5. External links

{{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

1. ^{{cite journal | vauthors = Endo S, Zhang YW, Takahashi S, Koyama T | title = Identification of human dehydrodolichyl diphosphate synthase gene | journal = Biochim Biophys Acta | volume = 1625 | issue = 3 | pages = 291–5 |date=Feb 2003 | pmid = 12591616 | pmc = | doi = 10.1016/S0167-4781(02)00628-0}}
2. ^1 {{cite web | title = Entrez Gene: DHDDS dehydrodolichyl diphosphate synthase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79947| accessdate = }}
3. ^{{cite journal | vauthors = Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D | title = A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews | journal = Am. J. Hum. Genet. | volume = 88 | issue = 2 | pages = 207–15 |date=February 2011 | pmid = 21295282 | pmc = 3035703 | doi = 10.1016/j.ajhg.2011.01.002 }}
4. ^{{cite journal | vauthors = Jaeken J, Hennet T, Matthijs G, Freeze HH | title = CDG nomenclature: time for a change! | journal = Biochim. Biophys. Acta | volume = 1792 | issue = 9 | pages = 825–6 |date=September 2009 | pmid = 19765534 | doi = 10.1016/j.bbadis.2009.08.005 }}
5. ^{{cite journal | vauthors = Freeze HH, Eklund EA, Ng BG, Patterson MC | title = Neurology of inherited glycosylation disorders | journal = Lancet Neurol. | volume = 11 | issue = 5 | pages = 453–66 |date=May 2012 | pmid = 22516080 | doi=10.1016/S1474-4422(12)70040-6| pmc = 3625645 }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |display-authors=etal}}
  • {{cite journal | vauthors=Jones J, Viswanathan K, Krag SS, Betenbaugh MJ |title=Polyprenyl lipid synthesis in mammalian cells expressing human cis-prenyl transferase. |journal=Biochem. Biophys. Res. Commun. |volume=331 |issue= 2 |pages= 379–83 |year= 2005 |pmid= 15850770 |doi= 10.1016/j.bbrc.2005.03.181 }}
  • {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
  • {{cite journal | vauthors=Kharel Y, Takahashi S, Yamashita S, Koyama T |title=In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system. |journal=Biochem. Biophys. Res. Commun. |volume=318 |issue= 1 |pages= 198–203 |year= 2004 |pmid= 15110773 |doi= 10.1016/j.bbrc.2004.04.007 }}
  • {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
  • {{cite journal | vauthors=Shridas P, Rush JS, Waechter CJ |title=Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells. |journal=Biochem. Biophys. Res. Commun. |volume=312 |issue= 4 |pages= 1349–56 |year= 2004 |pmid= 14652022 |doi=10.1016/j.bbrc.2003.11.065 }}
  • {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
{{refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/books/NBK1417/ GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview]
{{Alkyl and aryl transferases}}{{Enzymes}}{{Portal bar|Molecular and Cellular Biology|border=no}}

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