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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
Location 20q13.2      Physical location : 52.769.987 - 52.790.516
Synonym name
  • cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)
    • Synonym symbol(s) HVDH, CYP24, MGC126273, MGC126274, P450-CC24
    EC.number 1.14.13.126
    DNA
    TYPE functioning gene
    STRUCTURE 20.53 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure three Sp1 site-like elements in the distal upstream sequence, playing a role in the regulation of the CYP24A1 gene expression
    MAPPING cloned Y linked N status confirmed
    Map cen - D20S902 - D20S1020 - D20S480 - ZNF218 - D20S854 - D20S183 - D20S211 - D20S876 - D20S1044 - D20S913 - BCAS1 - D20S720 - CYP24A1 - D20S609 - D20S120 - D20S708E - D20S776 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3089 - 448 - 2001 11698670
    12 - 3287 - 514 - 2001 11698670
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Hearing/Equilibriumearinnercochlea highly
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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