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FLASH GENE
Symbol CYP27B1 contributors: mct/npt - updated : 27-06-2009
HGNC name cytochrome P450, family 27, subfamily B, polypeptide 1
HGNC id 2606
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated HemoP
mono polymer monomer
HOMOLOGY
interspecies homolog to murine Cyp40
Homologene
FAMILY
  • cytochrome P450 subfamily XXVIIB
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • plays a pivotal role in vitamin D physiology by catalyzing synthesis of active 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] (Wu 2007)
  • putative intracrine modulator of vitamin D function in peripheral tissues
  • acting predominantly on endochondral bone formation
  • during pregnancy, calcitriol, the active metabolite of vitamin D, is metabolized by decidua and placental tissue by means of CYP27B1 and CYP24A1 for synthesis and inactivation of calcitriol respectively(PMIDC:
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , electron transport , detoxification
    text
  • involved in normal bone growth, tissue differentiation and calcium homeostasis, oxidative metabolism
    • PATHWAY
    metabolism drug , lipid/lipoprotein , vitamin
    signaling
    vitamin biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH, heme
    • protein
  • flavoprotein P450 oxidoreductase (POR)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PDDR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in renal cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    targeted ablation induces skeletal, reproductive, immune dysfunction