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Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006668 Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_006668.1, 5729795
Length 2138 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.
Product cholesterol 24-hydroxylase precursor
Comment

Summary: 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].

RefSeq NP_006659.1
CDS 1..1503
Misc Feature(1)7..69
Misc Feature(2)100..1398
Misc Feature(3)154..1467
Misc Feature(4)1309..1311
Exon (1)120..200
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (2)201..282
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (3)283..356
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (4)357..443
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (5)444..582
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (6)583..693
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (7)694..844
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (8)845..907
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (9)908..980
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (10)981..1065
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (11)1066..1176
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (12)1177..1265
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (13)1266..1332
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Exon (14)1333..2077
Gene:CYP46A1
Gene Synonym:CP46; CYP46
Translation MSPGLLLLGSAVLLAFGLCCTFVHRARSRYEHIPGPPRPSFLLGHLPCFWKKDEVGGRVL QDVFLDWAKKYGPVVRVNVFHKTSVIVTSPESVKKFLMSTKYNKDSKMYRALQTVFGERL FGQGLVSECNYERWHKQRRVIDLAFSRSSLVSLMETFNEKAEQLVEILEAKADGQTPVSM QDMLTYTAMDILAKAAFGMETSMLLGAQKPLSQAVKLMLEGITASRNTLAKFLPGKRKQL REVRESIRFLRQVGRDWVQRRREALKRGEEVPADILTQILKAEEGAQDDEGLLDNFVTFF IAGHETSANHLAFTVMELSRQPEIVARLQAEVDEVIGSKRYLDFEDLGRLQYLSQVLKES LRLYPPAWGTFRLLEEETLIDGVRVPGNTPLLFSTYVMGRMDTYFEDPLTFNPDRFGPGA PKPRFTYFPFSLGHRSCIGQQFAQMEVKVVMAKLLQRLEFRLVPGQRFGLQEQATLKPLD PVLCTLRPRGWQPAPPPPPC
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Position Chain Variation Link
173+dbSNP:
173+a, gdbSNP:200569884
219+dbSNP:
219+c, tdbSNP:141032633
378+dbSNP:
378+g, tdbSNP:144966483
381+c, tdbSNP:139245529
478+dbSNP:
478+a, gdbSNP:75832974
559+a, cdbSNP:74730047
562+a, gdbSNP:148568536
722+dbSNP:
722+a, gdbSNP:142905408
785+a, gdbSNP:151175005
828+c, tdbSNP:201604068
840+g, tdbSNP:201085949
896+dbSNP:
896+c, tdbSNP:78767954
912+dbSNP:
912+c, gdbSNP:200661407
969+g, tdbSNP:112687989
972+c, tdbSNP:187491029
975+a, gdbSNP:201760580
990+dbSNP:
990+c, tdbSNP:188075791
1068+dbSNP:
1068+c, gdbSNP:140144142
1101+a, gdbSNP:200110496
1134+c, tdbSNP:143992631
1159+a, gdbSNP:146435738
1170+a, gdbSNP:140794624
1248+dbSNP:
1248+c, tdbSNP:199588723
1249+c, gdbSNP:201296209
1270+dbSNP:
1270+c, tdbSNP:200564104
1281+c, tdbSNP:200043004
1314+c, tdbSNP:201784451
1333+dbSNP:
1333+a, gdbSNP:144915500
1376+a, tdbSNP:138751864
1381+c, tdbSNP:148881618
1392+c, tdbSNP:143537324
1444+g, tdbSNP:200877443
1550+a, gdbSNP:144296616
1593+c, tdbSNP:187836713
1594+c, tdbSNP:193231294
1601+c, tdbSNP:185303723
1644+a, cdbSNP:190228579
1689+a, gdbSNP:148734093
1877+c, tdbSNP:142328283
1932+c, tdbSNP:192811535
1977+c, tdbSNP:147831141
1998+c, tdbSNP:15506
2064+a, gdbSNP:141330096
Gene SymbolCYP46A1
Gene SynonymCP46; CYP46
Chromosome14
Locus Map14q32.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_006668 Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA. On-demand $699.00 18
Title Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in age-related macular degeneration .
Author Fourgeux,C., Dugas,B., Richard,F., Bjorkhem,I., Acar,N., Bron,A.M., Korobelnik,J.F., Leveziel,N., Zerbib,J., Puche,N., Creuzot-Garcher,C.P., Souied,E. and Bretillon,L.
Journal Invest. Ophthalmol. Vis. Sci. 53 (11), 7026-7033 (2012)
Title An intronic CYP46A1 polymorphism is associated with Alzheimer disease in a Chinese Han population .
Author He,X.M., Zhang,Z.X., Zhang,J.W., Zhou,Y.T., Wu,C.B., Tang,M.N. and Hong,Z.
Journal J. Mol. Neurosci. 47 (3), 514-518 (2012)
Title Marked change in the balance between CYP27A1 and CYP46A1 mediated elimination of cholesterol during differentiation of human neuronal cells .
Author Milagre,I., Olin,M., Nunes,M.J., Moutinho,M., Lovgren-Sandblom,A., Gama,M.J., Bjorkhem,I. and Rodrigues,E.
Journal Neurochem. Int. 60 (2), 192-198 (2012)
Title Effect of cholesterol and CYP46 polymorphism on cognitive event-related potentials .
Author Lai,C.L., Hsu,C.Y., Liou,L.M., Hsieh,H.Y., Hsieh,Y.H. and Liu,C.K.
Journal Psychophysiology 48 (11), 1572-1577 (2011)
Title Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma .
Author Mossbock,G., Weger,M., Faschinger,C., Schmut,O., Renner,W., Wedrich,A., Zimmermann,C. and El-Shabrawi,Y.
Journal Mol. Vis. 17, 616-620 (2011)
Title Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants .
Author Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and Nebert,D.W.
Journal Pharmacogenetics 14 (1), 1-18 (2004)
Title On the turnover of brain cholesterol in patients with Alzheimer's disease. Abnormal induction of the cholesterol-catabolic enzyme CYP46 in glial cells .
Author Bogdanovic,N., Bretillon,L., Lund,E.G., Diczfalusy,U., Lannfelt,L., Winblad,B., Russell,D.W. and Bjorkhem,I.
Journal Neurosci. Lett. 314 (1-2), 45-48 (2001)
Title Oxysterol biosynthetic enzymes .
Author Russell,D.W.
Journal Biochim. Biophys. Acta 1529 (1-3), 126-135 (2000)
Title cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain .
Author Lund,E.G., Guileyardo,J.M. and Russell,D.W.
Journal Proc. Natl. Acad. Sci. U.S.A. 96 (13), 7238-7243 (1999)
Title Cholesterol homeostasis in human brain: turnover of 24S-hydroxycholesterol and evidence for a cerebral origin of most of this oxysterol in the circulation .
Author Bjorkhem,I., Lutjohann,D., Diczfalusy,U., Stahle,L., Ahlborg,G. and Wahren,J.
Journal J. Lipid Res. 39 (8), 1594-1600 (1998)


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