Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DHDDS contributors: mct - updated : 28-12-2017
HGNC name dehydrodolichyl diphosphate synthase
HGNC id 20603
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-linked glycosylation site (Asn-X-Ser(Thr)
  • HOMOLOGY
    interspecies homolog to rattus Rn.24616
    homolog to murine 3222401G21Rik
    Homologene
    FAMILY UPP synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text located in the endoplasmic reticulum
    basic FUNCTION
  • implicated in the levels of dolichol-oligosaccharide intermediate biosynthesis
  • biosynthetic precursor for dolichol which plays an important role as a sugar-carrier lipid in the biosynthesis of glycoprotein in eukaryotic cells
  • essential enzyme for dolichol synthesis, permitting global N-linked glycosylation
  • key protein for the generation and continuous renewal of photoreceptor outer segments
  • connects the upstream mevalonate pathway to the membrane-bound N-linked glycosylation machinery supported by a multitude of enzymes and cofactors
  • key enzyme in the pathway of dolichol, which plays an important role in N-glycosylation of many glycoproteins, including rhodopsin
  • is an eukaryotic cis prenyltransferase (cis-PT) that catalyzes chain elongation of farnesyl diphosphate via multiple condensations with isopentenyl diphosphate to form dehydrodolichyl diphosphate, a precursor for the glycosyl carrier dolichylpyrophophate involved in N-linked glycosylation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • specific interaction with NPC2
  • NUS1 physically interacts with DHDDS to stabilize the dehydrodolichyl diphosphate synthase complex and potentiate its enzymatic activity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RPD , CDG1BB
    Susceptibility to Developmental and epileptic encephalopathy (DEE)
    Variant & Polymorphism other de novo missense mutation c.632G>A (p.Arg211Gln) associated with DEE
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorial  
    target of specific therapeutic options for RP
    ANIMAL & CELL MODELS