Dehydrodolichyl diphosphate synthase

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DHDDS
Identifiers
Aliases DHDDS, CIT, CPT, DS, HDS, RP59, Dehydrodolichyl diphosphate synthase, dehydrodolichyl diphosphate synthase subunit
External IDs MGI: 1914672 HomoloGene: 32615 GeneCards: DHDDS
RNA expression pattern
PBB GE DHDDS 218547 at fs.png
More reference expression data
Orthologs
Species Human Mouse
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_080420.2
NP_080420

Location (UCSC) Chr 1: 26.43 – 26.47 Mb Chr 4: 133.97 – 134 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene.[3][4]

Function[edit]

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.[4]

Clinical significance[edit]

It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa.[5] 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).[6] Interestingly, many CDG subtypes present with retinitis pigmentosa as a major feature.[7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: DHDDS dehydrodolichyl diphosphate synthase". 
  5. ^ 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 3035703Freely accessible. PMID 21295282. 
  6. ^ 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. PMID 19765534. 
  7. ^ 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. PMID 22516080. 

Further reading[edit]

External links[edit]