Property Summary

NCBI Gene PubMed Count 61
PubMed Score 66.00
PubTator Score 100.07

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytic glioma -2.000 1.9e-03
ependymoma -2.900 3.5e-15
oligodendroglioma -2.100 4.9e-17
glioblastoma -3.800 1.1e-05
group 4 medulloblastoma -4.500 1.1e-08
atypical teratoid / rhabdoid tumor -3.500 1.8e-08
medulloblastoma, large-cell -4.700 1.4e-05
primitive neuroectodermal tumor -3.200 1.6e-04
intraductal papillary-mucinous adenoma (... -1.200 1.5e-03
intraductal papillary-mucinous neoplasm ... -1.200 1.6e-02
pediatric high grade glioma -3.700 8.5e-08
pilocytic astrocytoma -2.300 1.7e-06
Pick disease -1.100 1.5e-03

Gene RIF (64)

PMID Text
26358780 hippocampal CYP46A1 protein and 24S-hydroxycholesterol levels were reduced in a mouse model of Alzheimer's Disease-like Tau neuropathology
25084760 under conditions of membrane cholesterol reduction by increased CYP46A1 expression, neurons increase isoprenoid synthesis and sGTPase prenylation. This leads to a reduction in liver X receptor activity
25017465 Human CYP46A1 oxidizes 7-dehydrocholesterol to 24-hydroxy-7-dehydrocholesterol and 25-hydroxy-7-dehydrocholesterol.
24924840 While there were no differences in cognitive performance between participants with and those without metabolic syndrome, ApoE and CYP46 genotypes did correlate with mental manipulation scores.
23792195 results of meta-analysis suggested that CYP46A1 rs754203 is a minor risk factor for Alzheimer's disease
23604141 To identify the determinants of tight azole binding to CYP46A1.
23288837 analysis of binding of the cyano- and fluoro-containing drug bicalutamide to cytochrome P450 46A1
23167762 A meta-analysis indicates that the CYP46 gene SNP rs754203 is not significantly associated with sporadic Alzheimer's disease susceptibility in Chinese Han populations.
23070465 An meta-analysis has successfully proved that CC genotype of the CYP46A1 T/C polymorphism could increase the risk of Alzheimer's disease.
22977134 The rs754203 C allele in the CYP46A1 gene may confer a higher risk for exudative age-related macular degeneration in patients who carry no risk alleles in the CFH and LOC387715 genes.
22528464 The intronic polymorphism in CYP46A1 is associated with Alzheimer disease in a Chinese Han population, and the CYP46A1 T allele might be a risk factor.
22185844 Differentiated Ntera2/clone D1 (NT2) cells express the key genes involved in brain cholesterol homeostasis including CYP46A1.
21729100 There was no association between the CYP46 genotype and measures of cognitive event-related potentials.
21386929 The rs754203 polymorphism itself is unlikely a genetic risk factor for primary open angle glaucoma in Caucasian individuals.
21049985 The average P450 concentrations/mg of total tissue protein were 345 fmol of CYP46A1 and 110 fmol of CYP27A1 in the temporal lobe, and 60 fmol of CYP46A1 and 490 fmol of CYP27A1 in the retina.
20693622 Study of two independent Chinese data sets indicates individuals with CYP46A1 promoter bearing the CG haplotype are genetically more susceptible to Alzheimer's disease than those with TA haplotype.
20682755 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20667828 Structural basis of drug binding to CYP46A1, an enzyme that controls cholesterol turnover in the brain.
20535486 Observational study of gene-disease association. (HuGE Navigator)
20193040 These results suggest that a disturbance of cholesterol metabolism may contribute to loss of EAAT2 in AD.
19647891 The data of this study suggested that CYP46 T/C SNP modulates parahippocampal and hippocampal morphology in young subjects.
19647891 Observational study of gene-disease association. (HuGE Navigator)
19553612 The rs754203 SNP in CYP46A1 was associated with a risk for POAG. This polymorphism was not associated with changes in plasma 24S-hydroxycholesterol.
19363267 From the logistic regression ananlsis of this stidy showed that the highest risk for was found for Alzheimer's disease individuals who co-inherited APOE epsilon4 allele, PRNP codon 129 homozygosity, PRND codon 174 Thr allele, and CYP46 rs754203 g allele.
19363267 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19286353 Observational study of gene-disease association. (HuGE Navigator)
19212968 Cholesterol 24-hydroxylase (CYP46A1) polymorphisms are associated with faster cognitive deterioration in Chinese older persons
19212968 Observational study of gene-disease association. (HuGE Navigator)
19161969 the substrate, cholesterol, enters CYP46A1 from the membrane
19059217 The expression of CYP46A1, as well as other cytochrome P450s involved in cholesterol homeostasis, are potently regulated by histone acetylation status.
18976975 Knockdown of cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
18842294 Observational study of gene-disease association. (HuGE Navigator)
18621681 substantial substrate-induced conformational changes in CYP46A1 suggest that structurally distinct compounds could bind in the enzyme active site
18511756 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17854420 Meta-analysis of gene-disease association. (HuGE Navigator)
17550732 Observational study of gene-disease association. (HuGE Navigator)
17335784 Observational study of gene-disease association. (HuGE Navigator)
17335784 here was no significant difference in the genotype or allele frequencies for CYP46 gene between AD patients and controls.
16960449 Observational study of gene-disease association. (HuGE Navigator)
16734927 Observational study of gene-disease association. (HuGE Navigator)
16734927 Polymorphism was associated with the risk of Alzheimer disease(AD) but subjects homozygous for the C alleles were protected from AD with an adjusted odds ratio.
16258842 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16157450 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16157450 Based on the results of genome-wide screens, along with biological studies, we selected three genes as candidates for AD risk factors: ATP-binding cassette transporter A1 (ABCA1), cholesterol 25-hydroxylase (CH25H) and cholesterol 24-hydroxylase (CH24H).
16055229 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16013913 Observational study of gene-disease association. (HuGE Navigator)
15975088 Observational study of gene-disease association. (HuGE Navigator)
15936520 Observational study of gene-disease association. (HuGE Navigator)
15936520 The GG genotype of the known rs754203 polymorphic site might be a risk factor for AD, especially in APOE varepsilon4 carriers. Interestingly, in AD patients the rs754203 G allele was more frequent in males than in females.
15450677 Observational study of gene-disease association. (HuGE Navigator)
15450677 the polymorphism of CYP46 intron 2 is implicated in the susceptibility to late-onset Alzheimer's disease and a strong synergistic interaction between CYP46 TT homozoygots
15331159 Observational study of gene-disease association. (HuGE Navigator)
15286456 Observational study of gene-disease association. (HuGE Navigator)
15172102 Observational study of gene-disease association. (HuGE Navigator)
15172102 In contrast to two previous reports but in accordance with one other, we were unable to detect an association between an intron 2 polymorphism of CYP46 and Alzheimer disease.
15165699 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15165699 The distribution of CYP46 genotypes was significantly different in AD compared to controls and the CYP46 and ApoE polymorphisms synergically increase the risk for AD development.
15106838 Observational study of gene-disease association. (HuGE Navigator)
15106838 Polymorphisms in the CYP46 gene are found not to be risk factors for Alzheimer's disease nor are they associated with parenchymal or vascular accumulation of amyloid-beta protein.
15034781 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
14640697 In addition to its involvement in cholesterol homeostasis in the brain, CYP46A1 has a broad substrate specificity and is able to metabolize neurosteroids and drugs that can cross the blood-brain barrier and are targeted to the central nervous system.
12533085 Observational study of gene-disease association. (HuGE Navigator)
12232784 Observational study of gene-disease association. (HuGE Navigator)
12123847 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSPGLLLLGSAVLLAFGLCCTFVHRARSRYEHIPGPPRPSFLLGHLPCFWKKDEVGGRVLQDVFLDWAKK      1 - 70
YGPVVRVNVFHKTSVIVTSPESVKKFLMSTKYNKDSKMYRALQTVFGERLFGQGLVSECNYERWHKQRRV     71 - 140
IDLAFSRSSLVSLMETFNEKAEQLVEILEAKADGQTPVSMQDMLTYTAMDILAKAAFGMETSMLLGAQKP    141 - 210
LSQAVKLMLEGITASRNTLAKFLPGKRKQLREVRESIRFLRQVGRDWVQRRREALKRGEEVPADILTQIL    211 - 280
KAEEGAQDDEGLLDNFVTFFIAGHETSANHLAFTVMELSRQPEIVARLQAEVDEVIGSKRYLDFEDLGRL    281 - 350
QYLSQVLKESLRLYPPAWGTFRLLEEETLIDGVRVPGNTPLLFSTYVMGRMDTYFEDPLTFNPDRFGPGA    351 - 420
PKPRFTYFPFSLGHRSCIGQQFAQMEVKVVMAKLLQRLEFRLVPGQRFGLQEQATLKPLDPVLCTLRPRG    421 - 490
WQPAPPPPPC                                                                491 - 500
//

Text Mined References (62)

PMID Year Title
26358780 2015 Cholesterol 24-hydroxylase defect is implicated in memory impairments associated with Alzheimer-like Tau pathology.
25084760 2015 Cholesterol 24S-Hydroxylase Overexpression Inhibits the Liver X Receptor (LXR) Pathway by Activating Small Guanosine Triphosphate-Binding Proteins (sGTPases) in Neuronal Cells.
25017465 2014 Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1.
24924840 2014 Effects of metabolic syndrome, apolipoprotein E, and CYP46 on cognition among Taiwanese Chinese.
23792195 2013 CYP46A1 intron-2T/C polymorphism and Alzheimer's disease: an updated meta-analysis of 16 studies including 3,960 cases and 3,828 controls.
23604141 2013 Antifungal Azoles: Structural Insights into Undesired Tight Binding to Cholesterol-Metabolizing CYP46A1.
23288837 2013 Binding of a cyano- and fluoro-containing drug bicalutamide to cytochrome P450 46A1: unusual features and spectral response.
23167762 2013 Association of CYP46 gene polymorphism with sporadic Alzheimer's disease in Chinese Han populations: a meta-analysis.
23070465 2013 CYP46A1 T/C polymorphism associated with the APOE ?4 allele increases the risk of Alzheimer's disease.
22977134 2012 Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in age-related macular degeneration.
22528464 2012 An intronic CYP46A1 polymorphism is associated with Alzheimer disease in a Chinese Han population.
22185844 2012 Marked change in the balance between CYP27A1 and CYP46A1 mediated elimination of cholesterol during differentiation of human neuronal cells.
21729100 2011 Effect of cholesterol and CYP46 polymorphism on cognitive event-related potentials.
21386929 2011 Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma.
21049985 2011 Quantification of cholesterol-metabolizing P450s CYP27A1 and CYP46A1 in neural tissues reveals a lack of enzyme-product correlations in human retina but not human brain.
20693622 2010 CYP46A1 functional promoter haplotypes decipher genetic susceptibility to Alzheimer's disease.
20682755 2011 A pilot study of gene/gene and gene/environment interactions in Alzheimer disease.
20667828 2010 Structural basis of drug binding to CYP46A1, an enzyme that controls cholesterol turnover in the brain.
20535486 2010 Capillary cerebral amyloid angiopathy identifies a distinct APOE epsilon4-associated subtype of sporadic Alzheimer's disease.
20193040 2010 Increased expression of cholesterol 24S-hydroxylase results in disruption of glial glutamate transporter EAAT2 association with lipid rafts: a potential role in Alzheimer's disease.
19647891 2011 A CYP46 T/C SNP modulates parahippocampal and hippocampal morphology in young subjects.
19553612 2009 Primary open-angle glaucoma: association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and plasma 24-hydroxycholesterol levels.
19363267 2009 Earlier onset of Alzheimer's disease: risk polymorphisms within PRNP, PRND, CYP46, and APOE genes.
19286353 2009 CYP46A1 variants influence Alzheimer's disease risk and brain cholesterol metabolism.
19212968 2009 Cholesterol 24-hydroxylase (CYP46A1) polymorphisms are associated with faster cognitive deterioration in Chinese older persons: a two-year follow up study.
19161969 2009 Combined use of mass spectrometry and heterologous expression for identification of membrane-interacting peptides in cytochrome P450 46A1 and NADPH-cytochrome P450 oxidoreductase.
19059217 2009 Transcriptional regulation of cholesterol 24-hydroxylase by histone deacetylase inhibitors.
18842294 2008 Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.
18621681 2008 Crystal structures of substrate-bound and substrate-free cytochrome P450 46A1, the principal cholesterol hydroxylase in the brain.
18511756 2008 Association of blood pressure and genetic background with white matter lesions in patients with mild cognitive impairment.
17854420 2008 Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer's disease.
17550732 2007 [Correlation of cholesterol 24-hydroxylase and ATP-binding cassette transporter A1 polymorphisms with Alzheimer's disease].
17335784 2007 Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer's disease in Chinese.
16960449 2006 Intron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients.
16734927 2006 Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population.
16258842 2005 CYP46 T/C polymorphism is not associated with Alzheimer's dementia in a population from Hungary.
16157450 2006 Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.
16055229 2006 Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease.
16013913 2005 A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.
15975088 2004 The effects of gender and CYP46 and apo E polymorphism on 24S-hydroxycholesterol levels in Alzheimer's patients treated with statins.
15936520 2005 CYP46: a risk factor for Alzheimer's disease or a coincidence?
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15450677 2004 Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese.
15331159 2004 Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's disease.
15286456 2004 Genetic association of CYP46 and risk for Alzheimer's disease.
15172102 2004 Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population.
15165699 2004 Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators.
15128046 2004 Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.
15106838 2004 APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease.
15034781 2004 Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14640697 2003 Broad substrate specificity of human cytochrome P450 46A1 which initiates cholesterol degradation in the brain.
12533085 2003 Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism.
12533083 2003 Cyp46 (24S-cholesterol hydroxylase): a genetic risk factor for Alzheimer disease.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12232784 2002 Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease.
12123847 2002 Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of Alzheimer's disease.
11698143 2001 On the turnover of brain cholesterol in patients with Alzheimer's disease. Abnormal induction of the cholesterol-catabolic enzyme CYP46 in glial cells.
11111082 2000 Oxysterol biosynthetic enzymes.
10377398 1999 cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain.
9717719 1998 Cholesterol homeostasis in human brain: turnover of 24S-hydroxycholesterol and evidence for a cerebral origin of most of this oxysterol in the circulation.