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Dehydrodolichyl diphosphate synthase

From Wikipedia, the free encyclopedia
DHDDS
Identifiers
AliasesDHDDS, CIT, CPT, DS, HDS, RP59, Dehydrodolichyl diphosphate synthase, dehydrodolichyl diphosphate synthase subunit, DEDSM, hCIT
External IDsOMIM: 608172; MGI: 1914672; HomoloGene: 32615; GeneCards: DHDDS; OMA:DHDDS - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001243564
NM_001243565
NM_024887
NM_205861
NM_001319959

NM_026144

RefSeq (protein)

NP_001230493
NP_001230494
NP_001306888
NP_079163
NP_995583

NP_080420
NP_001349888
NP_001349889
NP_001349890
NP_001349891

Location (UCSC)Chr 1: 26.43 – 26.47 MbChr 4: 133.97 – 134 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene.[5][6]

Function

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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.[6]

Clinical significance

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It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa.[7] 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).[8] Many CDG subtypes present with retinitis pigmentosa as a major feature.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000117682Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000012117Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Endo S, Zhang YW, Takahashi S, Koyama T (Feb 2003). "Identification of human dehydrodolichyl diphosphate synthase gene". Biochim Biophys Acta. 1625 (3): 291–5. doi:10.1016/S0167-4781(02)00628-0. PMID 12591616.
  6. ^ a b "Entrez Gene: DHDDS dehydrodolichyl diphosphate synthase".
  7. ^ 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 (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. 88 (2): 207–15. doi:10.1016/j.ajhg.2011.01.002. PMC 3035703. PMID 21295282.
  8. ^ Jaeken J, Hennet T, Matthijs G, Freeze HH (September 2009). "CDG nomenclature: time for a change!". Biochim. Biophys. Acta. 1792 (9): 825–6. doi:10.1016/j.bbadis.2009.08.005. PMC 3917312. PMID 19765534.
  9. ^ Freeze HH, Eklund EA, Ng BG, Patterson MC (May 2012). "Neurology of inherited glycosylation disorders". Lancet Neurol. 11 (5): 453–66. doi:10.1016/S1474-4422(12)70040-6. PMC 3625645. PMID 22516080.

Further reading

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