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Aliases for CYP46A1 Gene

Aliases for CYP46A1 Gene

  • Cytochrome P450, Family 46, Subfamily A, Polypeptide 1 2 3
  • CYP46 3 4 6
  • Cytochrome P450, Subfamily 46 (Cholesterol 24-Hydroxylase) 2 3
  • Cytochrome P450 46A1 3 4
  • CH24H 3 4
  • Cholesterol 24-Hydroxylase 3
  • EC 4
  • CP46 3

External Ids for CYP46A1 Gene

Previous HGNC Symbols for CYP46A1 Gene

  • CYP46

Previous GeneCards Identifiers for CYP46A1 Gene

  • GC14P093966
  • GC14P098140
  • GC14P099220
  • GC14P100150
  • GC14P080333

Summaries for CYP46A1 Gene

Entrez Gene Summary for CYP46A1 Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP46A1 Gene

CYP46A1 (Cytochrome P450, Family 46, Subfamily A, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP46A1 include alzheimer disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP11A1.

UniProtKB/Swiss-Prot for CYP46A1 Gene

  • Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole.

Gene Wiki entry for CYP46A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP46A1 Gene

Genomics for CYP46A1 Gene

Regulatory Elements for CYP46A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP46A1 Gene

99,684,304 bp from pter
99,727,301 bp from pter
42,998 bases
Plus strand

Genomic View for CYP46A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP46A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP46A1 Gene

Proteins for CYP46A1 Gene

  • Protein details for CYP46A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cholesterol 24-hydroxylase
    Protein Accession:
    Secondary Accessions:
    • B4DHP8
    • E7EQG9
    • Q8N2B0

    Protein attributes for CYP46A1 Gene

    500 amino acids
    Molecular mass:
    56821 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP46A1 Gene

    Alternative splice isoforms for CYP46A1 Gene


neXtProt entry for CYP46A1 Gene

Proteomics data for CYP46A1 Gene at MOPED

Post-translational modifications for CYP46A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP46A1 Gene

Antibody Products

No data available for DME Specific Peptides for CYP46A1 Gene

Domains for CYP46A1 Gene

Gene Families for CYP46A1 Gene

Protein Domains for CYP46A1 Gene

Suggested Antigen Peptide Sequences for CYP46A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome P450 family.
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP46A1: view

Function for CYP46A1 Gene

Molecular function for CYP46A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.2 uM for 24(S)-hydroxycholesterol {ECO:0000269 PubMed:14640697};
UniProtKB/Swiss-Prot CatalyticActivity:
Cholesterol + NADPH + O(2) = (24S)-24-hydroxycholesterol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot Function:
Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole.

Enzyme Numbers (IUBMB) for CYP46A1 Gene

Gene Ontology (GO) - Molecular Function for CYP46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS 10377398
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0020037 heme binding IDA 18621681
GO:0033781 cholesterol 24-hydroxylase activity IDA 18621681
genes like me logo Genes that share ontologies with CYP46A1: view

Phenotypes for CYP46A1 Gene

MGI mutant phenotypes for CYP46A1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CYP46A1: view

Animal Model Products

CRISPR Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CYP46A1 Gene

Localization for CYP46A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP46A1 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein.

Subcellular locations from

Jensen Localization Image for CYP46A1 Gene COMPARTMENTS Subcellular localization image for CYP46A1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 10377398
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYP46A1: view

Pathways for CYP46A1 Gene

genes like me logo Genes that share pathways with CYP46A1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat

Interacting Proteins for CYP46A1 Gene

Gene Ontology (GO) - Biological Process for CYP46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0006707 cholesterol catabolic process IDA 18621681
GO:0006805 xenobiotic metabolic process TAS --
GO:0007399 nervous system development TAS 10377398
GO:0008206 bile acid metabolic process TAS --
genes like me logo Genes that share ontologies with CYP46A1: view

Drugs for CYP46A1 Gene

(7) HMDB Compounds for CYP46A1 Gene

Compound Synonyms Cas Number PubMed IDs
  • (24S)-24-Hydroxycholesterol
  • (+)-ent-Cholesterol
  • (protoporphyrinato)iron
  • Adenine-nicotinamide dinucleotide phosphate
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide

(3) Novoseek inferred chemical compound relationships for CYP46A1 Gene

Compound -log(P) Hits PubMed IDs
24s-hydroxy-cholesterol 98 33
lathosterol 71.8 2
cholesterol 71.2 85
genes like me logo Genes that share compounds with CYP46A1: view

Transcripts for CYP46A1 Gene

Unigene Clusters for CYP46A1 Gene

Cytochrome P450, family 46, subfamily A, polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP46A1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP46A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
SP1: -
SP2: -

Relevant External Links for CYP46A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP46A1 Gene

mRNA expression in normal human tissues for CYP46A1 Gene

mRNA differential expression in normal tissues according to GTEx for CYP46A1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (9.1), Brain - Nucleus accumbens (basal ganglia) (8.0), Brain - Caudate (basal ganglia) (7.8), and Brain - Cortex (4.8).

Protein differential expression in normal tissues for CYP46A1 Gene

This gene is overexpressed in Heart (45.3), Frontal cortex (11.8), and Fetal Brain (10.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CYP46A1 Gene

SOURCE GeneReport for Unigene cluster for CYP46A1 Gene Hs.25121

mRNA Expression by UniProt/SwissProt for CYP46A1 Gene

Tissue specificity: Expressed in brain. The mRNA was broadly distributed with higher levels in gray matter zones and lower levels in regions rich in white matter. Not detected in fetal sample but its expression increases linearly with age
genes like me logo Genes that share expressions with CYP46A1: view

Expression partners for CYP46A1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for CYP46A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP46A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CYP46A1 35
  • 90.33 (n)
  • 93 (a)
CYP46A1 36
  • 81 (a)
(Canis familiaris)
Mammalia CYP46A1 35
  • 90.12 (n)
  • 94.03 (a)
CYP46A1 36
  • 90 (a)
(Mus musculus)
Mammalia Cyp46a1 35
  • 89.6 (n)
  • 94.8 (a)
Cyp46a1 16
Cyp46a1 36
  • 95 (a)
(Pan troglodytes)
Mammalia CYP46A1 35
  • 99.59 (n)
  • 100 (a)
CYP46A1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Cyp46a1 35
  • 88.83 (n)
  • 94.54 (a)
(Ornithorhynchus anatinus)
Mammalia CYP46A1 36
  • 56 (a)
(Gallus gallus)
Aves CYP46A1 35
  • 66.52 (n)
  • 60.21 (a)
CYP46A1 36
  • 57 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 51 (a)
-- 36
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mgc108213 35
  • 59.04 (n)
  • 55.72 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC64404 35
(Danio rerio)
Actinopterygii zgc63602 35
cyp46a1 36
  • 47 (a)
CYP46A1 (4 of 5) 36
  • 44 (a)
CYP46A1 (5 of 5) 36
  • 39 (a)
cyp46a2 36
  • 47 (a)
cyp46a4 36
  • 48 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.48 35
fruit fly
(Drosophila melanogaster)
Insecta Cyp310a1 36
  • 18 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP97A3 35
  • 40.64 (n)
  • 29.64 (a)
(Oryza sativa)
Liliopsida Os02g0817900 35
  • 44.22 (n)
  • 30.61 (a)
Species with no ortholog for CYP46A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP46A1 Gene

Gene Tree for CYP46A1 (if available)
Gene Tree for CYP46A1 (if available)

Paralogs for CYP46A1 Gene

Paralogs for CYP46A1 Gene

(3) SIMAP similar genes for CYP46A1 Gene using alignment to 5 proteins: Pseudogenes for CYP46A1 Gene

genes like me logo Genes that share paralogs with CYP46A1: view

Variants for CYP46A1 Gene

Sequence variations from dbSNP and Humsavar for CYP46A1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs15506 -- 99,727,222(-) TCACA(C/T)GCAGA utr-variant-3-prime
rs754203 -- 99,691,630(-) AGCCC(C/T)GGGGG intron-variant
rs911913 -- 99,716,464(+) GGCAT(C/T)CCCTC intron-variant
rs943880 -- 99,700,152(-) GCAGC(C/G)CCTAC intron-variant
rs943881 -- 99,699,963(-) gagcg(A/G)ctgct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYP46A1 Gene

Variant ID Type Subtype PubMed ID
dgv1978n71 CNV Loss 21882294
nsv902223 CNV Loss 21882294
nsv470667 CNV Loss 18288195
nsv1423 CNV Loss 18451855

Relevant External Links for CYP46A1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP46A1 Gene

Disorders for CYP46A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for CYP46A1 Gene in MalaCards »

(1) Disease for CYP46A1 Gene

(1) University of Copenhagen DISEASES for CYP46A1 Gene

(3) Novoseek inferred disease relationships for CYP46A1 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 71.6 34
neurodegeneration 40.8 1
senile plaques 38.1 3

Relevant External Links for CYP46A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CYP46A1: view

No data available for OMIM , UniProtKB/Swiss-Prot and Genatlas for CYP46A1 Gene

Publications for CYP46A1 Gene

  1. cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. (PMID: 10377398) Lund E.G. … Russell D.W. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  2. Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. (PMID: 12533085) Papassotiropoulos A. … Hock C. (Arch. Neurol. 2003) 3 23 48
  3. Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators. (PMID: 15165699) Borroni B. … Padovani A. (Neurobiol. Aging 2004) 3 23 48
  4. Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease. (PMID: 15034781) Johansson A. … Prince J.A. (Hum. Genet. 2004) 3 23 48
  5. Broad substrate specificity of human cytochrome P450 46A1 which initiates cholesterol degradation in the brain. (PMID: 14640697) Mast N. … Pikuleva I.A. (Biochemistry 2003) 3 4 23

Products for CYP46A1 Gene

Sources for CYP46A1 Gene

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