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Dhcr24 Gene Detail
Summary
  • Symbol
    Dhcr24
  • Name
    24-dehydrocholesterol reductase
  • Synonyms
    2310076D10Rik, 3-beta-hydroxysterol delta-24 reductase, 5830417J06Rik, mKIAA0018, seladin-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922004
    NCBI Gene: 74754
Location & Maps
more
  • Sequence Map
    Chr4:106561038-106589113 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      28076 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 49.67 cM, cytoband C7
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DHCR24, 24-dehydrocholesterol reductase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DHCR24, 24-dehydrocholesterol reductase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DCE, Nbla03646, seladin-1, SELADIN1
  • Links
    NCBI Gene ID: 1718
    neXtProt AC: NX_Q15392

  • Chr Location
    1p32.3; chr1:54849627-54887248 (-)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 8850
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: DHCR24
  • Gene Tree
    Dhcr24
Human Diseases
more
  • Diseases
    1 with human DHCR24 associations

Human Disease Mouse Models
       Desmosterolosis   OMIM: 602398
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Chemically induced (other)
    2
  • Gene trapped
    11
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    4 involving Dhcr24
  • Incidental Mutations
    APF
In spite of having almost no plasma or tissue cholesterol, homozygous mutant mice are largely viable and display a mild growth phenotype. Inactivation did impair prenatal viability as well as infertility.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    42
  • GO References
    11
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
    431
  • Tissues
    172
  • cDNA Data
    146
  • Literature Summary
    7
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008196 VEGA Gene Model | MGI Sequence Detail 28076 C57BL/6J ±  kb
transcript OTTMUST00000018774 VEGA | MGI Sequence Detail 4028 Not Applicable  
polypeptide OTTMUSP00000008616 VEGA | MGI Sequence Detail 516 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    136 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000006453 delta(24)-sterol reductase
  • EC
    1.3.1.72
  • InterPro Domains
    IPR016169 CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2
    IPR016166 FAD-binding, type 2
    IPR006094 FAD linked oxidase, N-terminal
Molecular
Reagents
less
  • All nucleic 149
    cDNA 147
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGI:1922840
References
more
  • Summaries
    All 49
    Developmental Gene Expression 7
    Gene Ontology 11
    Phenotypes 21
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:224387 Sisecioglu M, et al., A compendium of expression patterns of cholesterol biosynthetic enzymes in the mouse embryo. J Lipid Res. 2015 Aug;56(8):1551-9
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory