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Gene Review

CYP46A1  -  cytochrome P450, family 46, subfamily A,...

Homo sapiens

Synonyms: CH24H, CP46, CYP46, Cholesterol 24-hydroxylase, Cytochrome P450 46A1
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Disease relevance of CYP46A1


Psychiatry related information on CYP46A1


High impact information on CYP46A1


Chemical compound and disease context of CYP46A1


Biological context of CYP46A1


Anatomical context of CYP46A1


Associations of CYP46A1 with chemical compounds

  • The frequency of the CYP46 C allele was similar (chi2=0.647, df=1, P=0.421, exact P=0.466, OR=0.845; 95% CI: 0.561-1.274) in both groups (CNT: 27%; 95% CI: 21.3-33.4; AD 30%; 95% CI: 25.0-36.3) [3].
  • Two different members of the phosphoenolpyruvate carboxylase(PEPC)-encoding multigene family (clones lambda CP21 and lambda CP46) have been isolated from a Sorghum vulgare lambda EMBL4 genomic library [14].
  • The use of the 3'-noncoding regions to probe Northern blots of RNA from roots, etiolated leaves and green leaves indicated that lambda CP21 and lambda CP46 encode the C3- and C4-type leaf PEPC isoforms, respectively [14].
  • Our data indicate that the Intron 2 polymorphism of CYP46 does not affect the risk of AD in our sample [15].
  • Many antineoplastic agents, on the other hand, inhibit the enzyme which include adriamycin, tamoxifen, alkyl-lysophospholipid, selenium, retinal and lipoidal amine CP-46, 665-1 [16].

Regulatory relationships of CYP46A1

  • In the present study, these claims have been explored by the genotyping of previously associated markers in CYP46A1 in three independent northern European case-control series encompassing 1323 individuals and including approximately 400 patients with measurements of CSF Abeta42 and phospho-tau protein levels [2].

Other interactions of CYP46A1


Analytical, diagnostic and therapeutic context of CYP46A1


  1. Expression of human cytochrome P450 46A1 in Escherichia coli: effects of N- and C-terminal modifications. Mast, N., Andersson, U., Nakayama, K., Bjorkhem, I., Pikuleva, I.A. Arch. Biochem. Biophys. (2004) [Pubmed]
  2. Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease. Johansson, A., Katzov, H., Zetterberg, H., Feuk, L., Johansson, B., Bogdanovic, N., Andreasen, N., Lenhard, B., Brookes, A.J., Pedersen, N.L., Blennow, K., Prince, J.A. Hum. Genet. (2004) [Pubmed]
  3. CYP46 T/C polymorphism is not associated with Alzheimer's dementia in a population from Hungary. Juhász, A., Rimanóczy, A., Boda, K., Vincze, G., Szlávik, G., Zana, M., Bjelik, A., Pákáski, M., Bódi, N., Palotás, A., Janka, Z., Kálmán, J. Neurochem. Res. (2005) [Pubmed]
  4. Studies on the transcriptional regulation of cholesterol 24-hydroxylase (CYP46A1): marked insensitivity toward different regulatory axes. Ohyama, Y., Meaney, S., Heverin, M., Ekström, L., Brafman, A., Shafir, M., Andersson, U., Olin, M., Eggertsen, G., Diczfalusy, U., Feinstein, E., Björkhem, I. J. Biol. Chem. (2006) [Pubmed]
  5. Differential expression of cholesterol hydroxylases in Alzheimer's disease. Brown, J., Theisler, C., Silberman, S., Magnuson, D., Gottardi-Littell, N., Lee, J.M., Yager, D., Crowley, J., Sambamurti, K., Rahman, M.M., Reiss, A.B., Eckman, C.B., Wolozin, B. J. Biol. Chem. (2004) [Pubmed]
  6. Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease. Tedde, A., Rotondi, M., Cellini, E., Bagnoli, S., Muratore, L., Nacmias, B., Sorbi, S. Neurobiol. Aging (2006) [Pubmed]
  7. Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators. Borroni, B., Archetti, S., Agosti, C., Akkawi, N., Brambilla, C., Caimi, L., Caltagirone, C., Di Luca, M., Padovani, A. Neurobiol. Aging (2004) [Pubmed]
  8. Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease. Shibata, N., Kawarai, T., Lee, J.H., Lee, H.S., Shibata, E., Sato, C., Liang, Y., Duara, R., Mayeux, R.P., St George-Hyslop, P.H., Rogaeva, E. Neurosci. Lett. (2006) [Pubmed]
  9. Intron 2 (T/C) CYP46 Polymorphism Is Associated with Alzheimer's Disease in Chinese Patients. Li, Y., Chu, L.W., Chen, Y.Q., Cheung, B.M., Leung, R.Y., Yik, P.Y., Ng, K.M., Mak, W., Jin, D.Y., St George-Hyslop, P., Song, Y.Q. Dementia and geriatric cognitive disorders (2006) [Pubmed]
  10. Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. Papassotiropoulos, A., Streffer, J.R., Tsolaki, M., Schmid, S., Thal, D., Nicosia, F., Iakovidou, V., Maddalena, A., Lütjohann, D., Ghebremedhin, E., Hegi, T., Pasch, T., Träxler, M., Brühl, A., Benussi, L., Binetti, G., Braak, H., Nitsch, R.M., Hock, C. Arch. Neurol. (2003) [Pubmed]
  11. Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population. Ma, S.L., Tang, N.L., Lam, L.C., Chiu, H.F. International psychogeriatrics / IPA. (2006) [Pubmed]
  12. On the turnover of brain cholesterol in patients with Alzheimer's disease. Abnormal induction of the cholesterol-catabolic enzyme CYP46 in glial cells. Bogdanovic, N., Bretillon, L., Lund, E.G., Diczfalusy, U., Lannfelt, L., Winblad, B., Russell, D.W., Björkhem, I. Neurosci. Lett. (2001) [Pubmed]
  13. Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's disease. Ingelsson, M., Jesneck, J., Irizarry, M.C., Hyman, B.T., Rebeck, G.W. Neurosci. Lett. (2004) [Pubmed]
  14. The phosphoenolpyruvate carboxylase gene family of Sorghum: promoter structures, amino acid sequences and expression of genes. Crétin, C., Santi, S., Keryer, E., Lepiniec, L., Tagu, D., Vidal, J., Gadal, P. Gene (1991) [Pubmed]
  15. Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of Alzheimer's disease. Desai, P., DeKosky, S.T., Kamboh, M.I. Neurosci. Lett. (2002) [Pubmed]
  16. Phospholipid/calcium-dependent protein kinase (protein kinase C) system: a major site of bioregulation. Kuo, J.F., Shoji, M., Girard, P.R., Mazzei, G.J., Turner, R.S., Su, H.D. Adv. Enzyme Regul. (1986) [Pubmed]
  17. APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease. Chalmers, K.A., Culpan, D., Kehoe, P.G., Wilcock, G.K., Hughes, A., Love, S. Neuroreport (2004) [Pubmed]
  18. Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population. Kabbara, A., Payet, N., Cottel, D., Frigard, B., Amouyel, P., Lambert, J.C. Neurosci. Lett. (2004) [Pubmed]
  19. Genetic association of CYP46 and risk for Alzheimer's disease. Combarros, O., Infante, J., Llorca, J., Berciano, J. Dementia and geriatric cognitive disorders. (2004) [Pubmed]
  20. CYP46: a risk factor for Alzheimer's disease or a coincidence? Golanska, E., Hulas-Bigoszewska, K., Wojcik, I., Rieske, P., Styczynska, M., Peplonska, B., Pfeffer, A., Luczywek, E., Wasiak, B., Gabryelewicz, T., Religa, D., Chodakowska-Zebrowska, M., Barcikowska, M., Sobow, T., Liberski, P.P. Neurosci. Lett. (2005) [Pubmed]
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