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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP46A1 Gene

protein-coding   GIFtS: 56
GCID: GC14P100150

cytochrome P450, family 46, subfamily A, polypeptide 1

(Previous names: cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)...)
(Previous symbol: CYP46)
 Explore 16 diseases affiliated with
CYP46A1 via our new
 Human Malady Compendium 
Biological research products
for CYP46A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 46, Subfamily A, Polypeptide 11 2     CH24H2 3
CYP461 2 3 5     CP462
Cytochrome P450, Subfamily 46 (Cholesterol 24-Hydroxylase)1 2     Cholesterol 24-Hydroxylase2
Cytochrome P450 46A12 3     EC 1.14.13.983

External Ids:    HGNC: 26411   Entrez Gene: 108582   Ensembl: ENSG000000365307   OMIM: 6040875   UniProtKB: Q9Y6A23   

Export aliases for CYP46A1 gene to outside databases

Previous GC identifers: GC14P093966 GC14P098140 GC14P099220 GC14P080333


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP46A1:
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)

UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2
Function: Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser
extent, 25-hydroxycholesterol

Gene Wiki entry for CYP46A1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP46A1 gene promoter:
         AhR   Tal-1beta   Arnt   PPAR-gamma1   CP2   FOXJ2 (long isoform)   Chx10   PPAR-gamma2   FOXJ2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP46A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP46A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP46A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.1   Ensembl cytogenetic band:  14q32.2   HGNC cytogenetic band: 14q32.1

CYP46A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP46A1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P100150:  view genomic region     (about GC identifiers)

Start:
100,150,641 bp from pter      End:
100,193,638 bp from pter
Size:
42,998 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2 (See protein sequence)
Recommended Name: Cholesterol 24-hydroxylase  
Size: 500 amino acids; 56821 Da
Cofactor: Heme group (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass
membrane protein
6/8 PDB 3D structures from and Proteopedia for CYP46A1 (see all 8):
2Q9F (3D)        2Q9G (3D)        3MDM (3D)        3MDR (3D)        3MDT (3D)        3MDV (3D)    

Explore the universe of human proteins at neXtProt for CYP46A1: NX_Q9Y6A2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6A2

  • CYP46A1 Protein expression data from MOPED and PaxDb:    About this image 
    CYP46A1 Protein Expression
    REFSEQ proteins: NP_006659.1  
    ENSEMBL proteins: 
     ENSP00000451069   ENSP00000261835   ENSP00000369577   ENSP00000450553   ENSP00000452151  
     ENSP00000451602   ENSP00000405779  
    Reactome Protein details: Q9Y6A2
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    Uscn Proteins for CYP46A1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS10377398
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----
    GO:0016021integral to membrane IEA--

    CYP46A1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CYP46A1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry Q9Y6A2

    ProtoNet protein and cluster: Q9Y6A2

    UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2
    Similarity: Belongs to the cytochrome P450 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP46A_HUMAN, Q9Y6A2
    Function: Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser
    extent, 25-hydroxycholesterol
    Catalytic activity: Cholesterol + NADPH + O(2) = (24S)-24-hydroxycholesterol + NADP(+) + H(2)O
    Biophysicochemical properties: Kinetic parameters: KM=2.2 uM for 24(S)-hydroxycholesterol;

         Enzyme Number (IUBMB): EC 1.14.13.981

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0005506iron ion binding IEA--
    GO:0008395steroid hydroxylase activity TAS10377398
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
         
    CYP46A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cyp46a1):
     homeostasis/metabolism 

    CYP46A1 for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts1.00
    Bile acid and bile salt metabolism0.70
    Primary bile acid biosynthesis0.84
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.53
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type1.00
    cytochrome P4500.73
    Phase 1 - Functionalization of compounds0.74
    3Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    4Biological oxidations
    Biological oxidations1.00
    metapathway biotransformation0.41
    5Endogenous sterols
    Endogenous sterols1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for CYP46A1 
        cytochrome P450
    metapathway biotransformation

    5/9        Reactome Pathways for CYP46A1 (see all 9)
        Cytochrome P450 - arranged by substrate type
    Bile acid and bile salt metabolism
    Metabolism
    Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol


    1         Kegg Pathway  (Kegg details for CYP46A1):
        Primary bile acid biosynthesis


    CYP46A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP46A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for CYP46A1 (ENSP000002618354) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CH25HENSP000003609184STRING: ENSP00000360918
    CYP27A1ENSP000002584154STRING: ENSP00000258415
    CYP39A1ENSP000002750164STRING: ENSP00000275016
    CYP7A1ENSP000003016454STRING: ENSP00000301645
    CELENSP000003611514STRING: ENSP00000361151
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006707cholesterol catabolic process TAS10377398
    GO:0006805xenobiotic metabolic process TAS--
    GO:0007399nervous system development TAS10377398
    GO:0008206bile acid metabolic process TAS--

    CYP46A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYP46A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CYP46A1

    7 HMDB Compounds for CYP46A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    24-Hydroxycholesterol(24S)-24-Hydroxycholesterol (see all 13)474-73-7--
    Cholesterol(+)-ent-Cholesterol (see all 39)57-88-5--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    3 Novoseek chemical compound relationships for CYP46A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    24s-hydroxy-cholesterol 98 43 15975088 (5), 16321981 (3), 19553612 (3), 19286353 (2) (see all 22)
    lathosterol 71.8 2 15975088 (1), 20298807 (1)
    cholesterol 71.2 155 20502497 (7), 19286353 (4), 16321981 (4), 16734927 (4) (see all 43)

    Search CenterWatch for drugs/clinical trials and news about CYP46A1 / CP46A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CYP46A1 gene: 
    NM_006668.1  

    Unigene Cluster for CYP46A1:

    Cytochrome P450, family 46, subfamily A, polypeptide 1
    Hs.25121  [show with all ESTs]
    Unigene Representative Sequence: AB209749
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554611(uc001ygn.1) ENST00000261835(uc001ygo.3) ENST00000380228
    ENST00000554176(uc001ygp.3) ENST00000554917 ENST00000556313 ENST00000556822
    ENST00000423126

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    Additional cDNA sequence: 

    AB209749.1 AF094480.1 AK090886.1 AK295216.1 BC022539.1 BC128037.1 

    3 DOTS entries:

    DT.108005  DT.120794727  DT.97821898 

    24/31 AceView cDNA sequences (see all 31):

    CD623075 NM_006668 BC022539 AF094480 BU070694 BQ066937 CD623079 AW469811 
    BU070933 AI554732 CD623081 H06539 BM727874 BI552024 BM805680 AA961615 
    AK090886 BU741551 BG704256 CF456253 AA760981 BM548130 BF930893 R49568 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CYP46A1    About this scheme

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


    ECgene alternative splicing isoforms for CYP46A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYP46A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCCTTCCTG
    CYP46A1 Expression
    About this image
    See CYP46A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP46A1

    SOURCE GeneReport for Unigene cluster: Hs.25121

    UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2
    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

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              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYP46A1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CYP46A11 cytochrome P450, family 46, subfamily A, polypeptide more 66.18(n)
    60.08(a)
      423450  NM_001252027.1  NP_001238956.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    54(a)
    51(a)
    1 ↔ many
    1 ↔ many
    GL343270.1(1499357-1519742)
    GL343270.1(1476011-1494012)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644042 hypothetical protein MGC64404 72.81(n)    BC054222.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636022 hypothetical protein MGC63602 74.19(n)   393433  BC055161.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons LUT11 carotenoid epsilon-ring hydroxylase 42.11(n)
    30.43(a)
      824479  NM_115173.2  NP_190881.2 
    rice
    (Oryza sativa)
    Liliopsida Os10g05466001 hypothetical protein 39.39(n)
    28.95(a)
      4349290  NM_001071752.1  NP_001065217.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP46A1 gene
    CYP4F222  CYP4F32  CYP4F22  CYP4F112  ENSG000002256072  CYP4B12  CYP3A52  CYP4X12  
    TBXAS12  CYP3A432  CYP3A42  CYP3A72  CYP4V22  CYP4A222  CYP4A112  CYP4F122  
    CYP4Z12  
    3 SIMAP similar genes for CYP46A1 using alignment to 7 protein entries:     CP46A_HUMAN (see all proteins):
    CYP3A43    CYP3A5    CYP4B1

    CYP46A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CYP46A1
    PGOHUM00000261896


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/780 NCBI SNPs in CYP46A1 are shown (see all 780    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1874910291,2
    Cother89396118(+) GAGATC/TGTGGC 2 I syn10--------
    rs619844391,2
    --80332541(+) GGGCCG/AGGCGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1117109791,2
    --80332553(+) GGGGGG/CATGGA 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1124629711,2
    --80332677(+) ACCCCT/AAACAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1128412271,2
    --80332963(+) CCTCAT/ACTTCA 1 -- us2k12Minor allele frequency- A:0.04CSA WA 120
    rs619844401,2
    --80334218(+) CCTAGT/CGCGCG 1 -- int12Minor allele frequency- C:0.39NA EA 122
    rs1114789101,2
    --80336015(+) GCCATT/CGCCAC 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs733485981,2
    C,F--80336272(+) TCCTTC/TTTATG 1 -- int13Minor allele frequency- T:0.13WA 122
    rs802413541,2
    F--80336736(+) CACATC/GCTACT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs170989231,2
    C,F,H--80336751(+) CGATCC/TGTGTA 1 -- int115Minor allele frequency- T:0.04NA NS EA WA 2110

    HapMap Linkage Disequilibrium report for CYP46A1 (100150641 - 100193638 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CYP46A1: --
    Human Gene Mutation Database (HGMD): CYP46A1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP46A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP46A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CYP46A1 for disorders           About GeneDecksing

    OMIM gene information: 604087    OMIM disorders: --

    16 diseases for CYP46A1:    About MalaCards
    cholesterol    open-angle glaucoma    primary open angle glaucoma    age related macular degeneration
    cerebral amyloid angiopathy    traumatic brain injury    brain injury    macular degeneration
    glaucoma    alzheimer's disease    neurodegeneration    cerebritis
    dementia    tuberculosis    hepatitis    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for CYP46A1:
    Keratoconus

    3 Novoseek disease relationships for CYP46A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 71.6 45 19286353 (2), 15034781 (2), 19363267 (2), 15106838 (2) (see all 25)
    neurodegeneration 40.8 1 19553612 (1)
    senile plaques 38.1 6 15148325 (2), 15331159 (1)

    Genetic Association Database (GAD): CYP46A1
    Human Genome Epidemiology (HuGE) Navigator: CYP46A1 (34 documents)

    Export disorders for CYP46A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CYP46A1 gene, integrated from 9 sources (see all 73):
    (articles sorted by number of sources associating them with CYP46A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. (PubMed id 10377398)1, 2, 3, 9 Lund E.G.... Russell D.W. (1999)
    2. CYP46: a risk factor for Alzheimer's disease or a coincidence? (PubMed id 15936520)1, 4, 9 Golanska E....Liberski P.P. (2005)
    3. Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease. (PubMed id 15034781)1, 4, 9 Johansson A....Prince J.A. (2004)
    4. Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's disease. (PubMed id 15331159)1, 4, 9 Ingelsson M....Rebeck G.W. (2004)
    5. Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. (PubMed id 12533085)1, 4, 9 Papassotiropoulos A....Hock C. (2003)
    6. Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators. (PubMed id 15165699)1, 4, 9 Borroni B....Padovani A. (2004)
    7. The effects of gender and CYP46 and apo E polymorphism on 24S-hydroxycholesterol levels in Alzheimer's patients treated with statins. (PubMed id 15975088)1, 4, 9 Vega G.L....Moore C. (2004)
    8. Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease. (PubMed id 16055229)1, 4, 9 Tedde A....Sorbi S. (2006)
    9. Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population. (PubMed id 15172102)1, 4, 9 Kabbara A....Lambert J.C. (2004)
    10. Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease. (PubMed id 16157450)1, 4, 9 Shibata N.... Rogaeva E. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10858 HGNC: 2641 AceView: CYP46A1 Ensembl:ENSG00000036530 euGenes: HUgn10858
    ECgene: CYP46A1 Kegg: 10858 H-InvDB: CYP46A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYP46A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CYP46A1 gene:
    Search GeneIP for patents involving CYP46A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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