Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CYP46A1 contributors: shn - updated : 14-06-2010
HGNC name cytochrome P450, family 46, subfamily A, polypeptide 1
HGNC id 2641
DNA
TYPE chromosome region
STRUCTURE 42.88 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D14S544 - D14S267 - CYP46A1 - D14S78 - D14S1426 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 2138 57 500 - 2004 15128046
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbraindiencephalonamygdala moderately
 brainbasal nucleicaudate nucleus highly
 brainmidbrainsubstantia nigra lowly
 braindiencephalonthalamus lowly
 brainbasal nucleiputamen moderately
 brainforebraincerebral cortex moderately
 brainforebraincerebral lobeoccipital lobemoderately
 brainforebraincerebral lobefrontal lobemoderately
 brainforebraincerebral lobetemporal lobemoderately
Visualeyeretina  highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousglia
Nervousneuron Homo sapiens
Visualganglion cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period
Text not deleted in fetal sample but expression increases linearly with age
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a cytochrome p450 domain
  • a single transmembrane domain
  • conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to Cyp46a1, Mus musculus
    ortholog to CYP46A1, Pan troglodytes
    ortholog to cyp46a1, Danio rerio
    ortholog to Cyp46a1, Rattus norvegicus
    Homologene
    FAMILY
  • cytochrome P450 superfamily of enzymes
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    text anchored to the membrane via a single transmembrane domain, axon
    basic FUNCTION
  • cholesterol 24-hydroxylase, catalyzing the synthesis of 24S-hydroxycholesterol, an oxysterol that is readily secreted from the CNS into the plasma and to a lesser extent, into 25 hydroxycholesterol
  • play a role in the brain cholesterol homeostasis
  • catalyzes cholesterol 24S-hydroxylation, the first step in cholesterol elimination from the brain
  • cholesterol 24-hydroxylase constitutes a major tissue-specific pathway for cholesterol turnover in the brain
  • components of the brain microsomal mixed-function monooxygenase system that catalyzes the conversion of cholesterol to 24-hydroxycholesterol
  • initiating the major pathway of cholesterol elimination from the brain and thereby controls cholesterol turnover in this organ, and complexing with four structurally distinct pharmaceuticals
  • neuron-specific cytochrome P450 that playing a pivotal role in maintaining cholesterol homeostasis in the CNS
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , electron transport
    text neurogenesis
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    cholesterol catabolism, steroid
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH, heme
  • protein
  • flavoprotein P450 oxidoreductase (POR)
  • cell & other
    REGULATION
    Other specificity protein (Sp) transcription factors control CYP46A1 expression, and are probably responsible for cell-type specificity
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to Alzheimer disease
  • rs754203 polymorphism is associated to primary open-angle glaucoma
  • Variant & Polymorphism SNP rs754203 polymorphism increasing the risk of Alzheimer's disease in a Chinese population
    Candidate gene candidate for retinal pathologies like age-related macular degeneration or glaucomas
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Cyp46a1-/- mice display unchanged hepatic cholesterol and bile acid metabolism parameters while the synthesis of new cholesterol is reduced by 40% in the brain