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FLASH GENE
Symbol CYP2D6 contributors: mct/npt - updated : 01-07-2008
HGNC name cytochrome P450, family 2, subfamily D, polypeptide 6
HGNC id 2625
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ER targeting domain
  • a proline-rich domain as well as the putative protein kinase A (PKA) and protein kinase C (PKC)-specific phosphorylation sites
    • conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    Homologene
    FAMILY
  • cytochrome P450 subfamily IID
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
    • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    text mitochondrial in liver (Sangar 2010)
    basic FUNCTION
  • monooxygenase
  • metabolizing antiarrythmics (sparteine and propafenone), amitryptiline, debrisoquine, catalyzing the demethylation of 7 ethoxy-coumarin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport , detoxification
    text oxidative metabolism
    PATHWAY
    metabolism drug
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH
  • heme
    • protein
  • flavoprotein P450 oxidoreductase (POR)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CYP2D6DM
    related resource Human Cytochrome P450 (CYP) Allele Nomenclature Committee
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    reduced CYP2D6 activity was a negative risk factor for methamphetamine dependence (Otani 2008)
    Susceptibility
  • to poor metabolizer phenotype (debrisoquine, sparteine)
  • to acute lymphoid and myeloid leukemia
    • Variant & Polymorphism other
  • certain alleles result in the poor metabolizer phenotype
  • "null" variants increasing the risk of acute lymphoid and myeloid leukemia
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS