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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
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   highly
Digestiveintestinesmall intestine  highly
 liver   lowly
 pancreas exocrine   predominantly
Reproductivefemale systemovary  moderately
Urinarybladder   moderately
cell lineage
cell lines
fluid/secretion
at STAGE
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