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