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FLASH GENE
Symbol PCBD1 contributors: - updated : 04-10-2005
HGNC name 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
HGNC id 8646
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to rattus Pcbd
ortholog to murine Pcbd
ortholog to chicken DCOH
Homologene
FAMILY pterin-4-alpha-carbinolamine dehydratase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • acting as a pterin-4-alpha-carbinolamine dehydratase (PCD)
  • regulating the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1)
  • involved in phenylalanine hydroxylation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism organic acid
    signaling
  • tetrahydrobiopterin biosynthesis
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PCD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in epidermis related to the depigmentation disorder vitiligo
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS