About   Help   FAQ
Cyp46a1 Gene Detail
Summary
  • Symbol
    Cyp46a1
  • Name
    cytochrome P450, family 46, subfamily a, polypeptide 1
  • Synonyms
    cholestrol 24-hydroxylase, Cyp46
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341877
    NCBI Gene: 13116
  • Gene Overview
    MyGene.info: CYP46A1
Location & Maps
more
  • Sequence Map
    Chr12:108334377-108362231 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27855 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 59.41 cM, cytoband F2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CYP46A1, cytochrome P450 family 46 subfamily A member 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CYP46A1, cytochrome P450 family 46 subfamily A member 1
    Orthology source: HomoloGene
  • Synonyms
    CP46, CYP46
  • Links
    NCBI Gene ID: 10858
    neXtProt AC: NX_Q9Y6A2

  • Chr Location
    14q32.1; chr14:99684262-99727321 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    7 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.
Mice homozygouse for deletions in this gene are essentially normal. Levels of 24(s)-hydroxycholesterol are reduced in serum and in the brain. Cholesterol synthesis in the brain is reduced 40%.
Gene Ontology
(GO)
Classifications
less
  • 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
less
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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021259 Ensembl Gene Model | MGI Sequence Detail 27855 C57BL/6J ±  kb
transcript ENSMUST00000021684 Ensembl | MGI Sequence Detail 2119 Not Applicable  
polypeptide ENSMUSP00000021684 Ensembl | MGI Sequence Detail 500 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    342 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 13
    cDNA 11
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 38
    Developmental Gene Expression 6
    Gene Ontology 4
    Phenotypes 7
  • Earliest
    J:56019 Lund EG, et al., cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. Proc Natl Acad Sci U S A. 1999 Jun 22;96(13):7238-43
  • Latest
    J:219376 La Fata G, et al., FMRP regulates multipolar to bipolar transition affecting neuronal migration and cortical circuitry. Nat Neurosci. 2014 Dec;17(12):1693-700

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory