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Cyp24a1 Gene Detail
Summary
  • Symbol
    Cyp24a1
  • Name
    cytochrome P450, family 24, subfamily a, polypeptide 1
  • Synonyms
    24-OHase, 25-hydroxyvitamin D-24-hydroxylase, CP24, Cyp24
  • Feature Type
    protein coding gene
  • IDs
    MGI:88593
    NCBI Gene: 13081
Location & Maps
more
  • Sequence Map
    Chr2:170482708-170497145 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14438 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CYP24A1, cytochrome P450 family 24 subfamily A member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CYP24A1, cytochrome P450 family 24 subfamily A member 1
    Orthology source: HomoloGene
  • Synonyms
    CP24, CYP24, HCAI, P450-CC24
  • Links
    NCBI Gene ID: 1591
    neXtProt AC: NX_Q07973

  • Chr Location
    20q13; chr20:54153449-54173985 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CYP24A1 associations

Human Disease Mouse Models
       Hypercalcemia, Infantile   OMIM: 143880
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Mice homozygous for disruption of this gene suffer a 50% mortality rate between birth and weaning. abnormalities are seen in the development of membranous bones.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019774 VEGA Gene Model | MGI Sequence Detail 14438 C57BL/6J ±  kb
transcript OTTMUST00000038488 VEGA | MGI Sequence Detail 3560 Not Applicable  
polypeptide OTTMUSP00000017229 VEGA | MGI Sequence Detail 514 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    114 from dbSNP Build 137
  • PCR
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000006106 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
  • EC
  • InterPro Domains
    IPR001128 Cytochrome P450
    IPR017972 Cytochrome P450, conserved site
    IPR002949 Cytochrome P450, E-class, CYP24A, mitochondrial
    IPR002401 Cytochrome P450, E-class, group I
Molecular
Reagents
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  • All nucleic 23
    cDNA 20
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-2310
References
more
  • Summaries
    All 45
    Developmental Gene Expression 7
    Gene Ontology 7
    Phenotypes 6
  • Earliest
    J:20133 Malas S, et al., The genes for endothelin 3, vitamin d 24-hydroxylase, and melanocortin 3 receptor map to distal mouse chromosome 2, in the region of conserved synteny with human chromosome 20. Mamm Genome. 1994;5:577-579
  • Latest
    J:211926 Ohata Y, et al., Elevated fibroblast growth factor 23 exerts its effects on placenta and regulates vitamin D metabolism in pregnancy of Hyp mice. J Bone Miner Res. 2014 Jul;29(7):1627-38

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory