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FLASH GENE
Symbol QDPR contributors: mct - updated : 21-12-2011
HGNC name quinoid dihydropteridine reductase
HGNC id 9752
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