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FLASH GENE
Symbol QDPR contributors: mct - updated : 21-12-2011
HGNC name quinoid dihydropteridine reductase
HGNC id 9752
Corresponding disease
HPABH4C hyperphenylalaninemia, BH4-deficient, C
Location 4p15.32      Physical location : 17.488.019 - 17.513.857
Synonym name
  • 6,7-dihydropteridine reductase
  • short chain dehydrogenase/reductase family 33C, member 1
    • Synonym symbol(s) DHPR, PKU2, SDR33C1, HDHPR, FLJ42391
    EC.number 1.6.99.7, 1.5.1.34
    DNA
    TYPE functioning gene
    STRUCTURE 25.84 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1660 - 244 - 1998 9744478
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveliver   moderately
     pancreas exocrine   moderately
    Nervousbrain   predominantly
    Reproductivefemale systemuteruscervix moderately
     female systemovary  moderately
    Skin/Tegumentskin   highly
    Visualeye   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Qdpr
    ortholog to murine Qdpr
    Homologene
    FAMILY
  • short-chain dehydrogenases/reductases (SDR) family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • producing tetrahydrobiopterin (BH4), an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases
  • being an essential component of the pterin-dependent aromatic amino acid hydroxylating systems
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , cofactor
    signaling
  • tetrahydrobiopterin (BH4) cycle
  • phenylalanine hydroxylation system
    • a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADP
    • protein
  • direct molecular interaction between CAV3 and QDPR which is likely to underlie their functional link and whose loss might therefore be involved in pathophysiological mechanisms associated to muscle caveolinopathies
  • physical interaction of RYR1 with QDPR (RYR1 is controlled by the electrical potential across the transverse tubular (TT) membrane) (
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPABH4C
    related resource Quinoid Dihydropteridine reductase deficiency
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS