Dehydrodolichyl diphosphate synthase

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Dehydrodolichyl diphosphate synthase
Identifiers
Symbols DHDDS ; CIT; CPT; DS; HDS; RP59
External IDs OMIM608172 MGI1914672 HomoloGene32615 GeneCards: DHDDS Gene
EC number 2.5.1.-
RNA expression pattern
PBB GE DHDDS 218547 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 79947 67422
Ensembl ENSG00000117682 ENSMUSG00000012117
UniProt Q86SQ9 Q99KU1
RefSeq (mRNA) NM_001243564 NM_026144
RefSeq (protein) NP_001230493 NP_080420
Location (UCSC) Chr 1:
26.76 – 26.8 Mb
Chr 4:
133.97 – 134 Mb
PubMed search [1] [2]

Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene.[1][2]

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.[2]

Clinical significance[edit]

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 namned DHDDS-CDG according to the novel nomenclature of CDGs).[4] Interestingly, many CDG subtypes present with retinitis pigmentosa as a major feature.[5]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: DHDDS dehydrodolichyl diphosphate synthase". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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]