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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
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