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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
Corresponding disease
PCD hyperphenylalaninemia with primapterinuria
Location 10q22      Physical location : 72.643.266 - 72.648.541
Synonym name
  • phenylalanine hydroxylase stimulating protein
  • pterin-4-alpha-carbinolamine dehydratase, tetrahydrobiopterin (BH4) cycle, phenylalanine hydroxylation system
    • Synonym symbol(s) PCD, DCOH, PHS, PCBD
    EC.number 4.2.1.96
    DNA
    TYPE functioning gene
    STRUCTURE 6.00 kb     4 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 1025 12 104 - -
    - splicing 689 - 104 - -
  • using an alternate exon in the 3' coding region compared to variant 1
    		•
    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