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
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