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FLASH GENE
Symbol CYP24A1 contributors: mct - updated : 29-04-2014
HGNC name cytochrome P450, family 24, subfamily A, polypeptide 1
HGNC id 2602
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated HemoP
mono polymer monomer
HOMOLOGY
Homologene
FAMILY
  • cytochrome P450 subfamily XXIV, multigenic cytochrome P450 superfamily of mixed-function monooxygenases
    • CATEGORY enzyme , protooncogene , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • catalyzing the 24-hydroxylation of 25(OH)D3
  • mitochondrial P450 enzyme that plays a key role in the metabolism of 1,25-dihydroxyvitamin D (hereinafter referred to as 1,25(OH)2D3)
  • modulates calcitriol metabolism and biologic effects (Muindl 2007)
  • epigenetic alterations in CYP24A1 may play a role in determining the phenotype of tumor-associated vasculature in the prostate tumor microenvironment
  • inactivates the active vitamin D3 metabolite 1,25-dihydroxyvitamin D3 (1,25-D3)
  • 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 cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS electron transport , detoxification
    text oxidative metabolism
    PATHWAY
    metabolism drug , vitamin
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    NADPH, heme
    protein flavoprotein P450 oxidoreductase (POR)
    cell & other
    REGULATION
    activated by upregulated by 1.25 (OH)2D3
    inhibited by downregulated by PTH
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in lung tumors restricts 1,25D3 activity and support the preclinical evaluation of CYP24 inhibitors for lung cancer treatment
    tumoral     --over  
    in renal cell carcinoma
    constitutional germinal mutation      
    bi-allelic mutations in CYP24A1 causes elevated serum vitamin D, hypercalciuria, nephrocalcinosis, and renal stones
    Susceptibility to vitamin D response variation in postmenopausal women
    Variant & Polymorphism other DNA methylation levels of CYP24A1 predict vitamin D response variation in postmenopausal women
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    selective inhibition of CYP24A1 may be a new approach for enhancement of the anti-tumor effect of 1,25-D3 on colorectal cancer
    ANIMAL & CELL MODELS
  • in fracture repair, delay in the mineralization of the cartilaginous matrix of the soft callus in Cyp24a1 -/- mutant animals, accompanied by reduced expression of chondrocyte marker genes