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Gene Review

DHCR7  -  7-dehydrocholesterol reductase

Homo sapiens

Synonyms: 7-DHC reductase, D7SR, Sterol Delta(7)-reductase
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Disease relevance of DHCR7


Psychiatry related information on DHCR7


High impact information on DHCR7


Chemical compound and disease context of DHCR7


Biological context of DHCR7


Anatomical context of DHCR7


Associations of DHCR7 with chemical compounds


Regulatory relationships of DHCR7

  • TM7SF2 mRNA is most predominantly expressed in heart and DHCR7 mRNA mostly in liver and brain [21].

Other interactions of DHCR7

  • Their genes have recently been assigned the symbols TM7SF2 and DHCR7 [21].
  • METHOD: Common apo E, DHCR7, and LDLR genotypes were determined in 137 biochemically characterised patients with Smith-Lemli-Opitz syndrome and 59 of their parents [17].
  • Here we report mutation analysis of the DHCR7 gene in SLOS patients from Poland (n = 15), Germany/Austria (n = 22) and Great Britain (n = 22) [1].

Analytical, diagnostic and therapeutic context of DHCR7


  1. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Witsch-Baumgartner, M., Ciara, E., Löffler, J., Menzel, H.J., Seedorf, U., Burn, J., Gillessen-Kaesbach, G., Hoffmann, G.F., Fitzky, B.U., Mundy, H., Clayton, P., Kelley, R.I., Krajewska-Walasek, M., Utermann, G. Eur. J. Hum. Genet. (2001) [Pubmed]
  2. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. Battaile, K.P., Steiner, R.D. Mol. Genet. Metab. (2000) [Pubmed]
  3. Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. Chignell, C.F., Kukielczak, B.M., Sik, R.H., Bilski, P.J., He, Y.Y. Free Radic. Biol. Med. (2006) [Pubmed]
  4. Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development. Tadjuidje, E., Hollemann, T. Dev. Dyn. (2006) [Pubmed]
  5. A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly. Shim, Y.H., Bae, S.H., Kim, J.H., Kim, K.R., Kim, C.J., Paik, Y.K. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  6. Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi. Linck, L.M., Hayflick, S.J., Lin, D.S., Battaile, K.P., Ginat, S., Burlingame, T., Gibson, K.M., Honda, M., Honda, A., Salen, G., Tint, G.S., Connor, W.E., Steiner, R.D. Prenat. Diagn. (2000) [Pubmed]
  7. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. Fitzky, B.U., Moebius, F.F., Asaoka, H., Waage-Baudet, H., Xu, L., Xu, G., Maeda, N., Kluckman, K., Hiller, S., Yu, H., Batta, A.K., Shefer, S., Chen, T., Salen, G., Sulik, K., Simoni, R.D., Ness, G.C., Glossmann, H., Patel, S.B., Tint, G.S. J. Clin. Invest. (2001) [Pubmed]
  8. Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Witsch-Baumgartner, M., Fitzky, B.U., Ogorelkova, M., Kraft, H.G., Moebius, F.F., Glossmann, H., Seedorf, U., Gillessen-Kaesbach, G., Hoffmann, G.F., Clayton, P., Kelley, R.I., Utermann, G. Am. J. Hum. Genet. (2000) [Pubmed]
  9. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Wassif, C.A., Maslen, C., Kachilele-Linjewile, S., Lin, D., Linck, L.M., Connor, W.E., Steiner, R.D., Porter, F.D. Am. J. Hum. Genet. (1998) [Pubmed]
  10. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Waterham, H.R., Wijburg, F.A., Hennekam, R.C., Vreken, P., Poll-The, B.T., Dorland, L., Duran, M., Jira, P.E., Smeitink, J.A., Wevers, R.A., Wanders, R.J. Am. J. Hum. Genet. (1998) [Pubmed]
  11. Estrogen receptor alpha and beta heterodimers exert unique effects on estrogen- and tamoxifen-dependent gene expression in human U2OS osteosarcoma cells. Monroe, D.G., Secreto, F.J., Subramaniam, M., Getz, B.J., Khosla, S., Spelsberg, T.C. Mol. Endocrinol. (2005) [Pubmed]
  12. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. Waterham, H.R., Wanders, R.J. Biochim. Biophys. Acta (2000) [Pubmed]
  13. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Correa-Cerro, L.S., Wassif, C.A., Kratz, L., Miller, G.F., Munasinghe, J.P., Grinberg, A., Fliesler, S.J., Porter, F.D. Hum. Mol. Genet. (2006) [Pubmed]
  14. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. Ginat, S., Battaile, K.P., Battaile, B.C., Maslen, C., Gibson, K.M., Steiner, R.D. Mol. Genet. Metab. (2004) [Pubmed]
  15. Sterols in blood of normal and Smith-Lemli-Opitz subjects. Ruan, B., Wilson, W.K., Pang, J., Gerst, N., Pinkerton, F.D., Tsai, J., Kelley, R.I., Whitby, F.G., Milewicz, D.M., Garbern, J., Schroepfer, G.J. J. Lipid Res. (2001) [Pubmed]
  16. Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. Prasad, C., Marles, S., Prasad, A.N., Nikkel, S., Longstaffe, S., Peabody, D., Eng, B., Wright, S., Waye, J.S., Nowaczyk, M.J. Am. J. Med. Genet. (2002) [Pubmed]
  17. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. Witsch-Baumgartner, M., Gruber, M., Kraft, H.G., Rossi, M., Clayton, P., Giros, M., Haas, D., Kelley, R.I., Krajewska-Walasek, M., Utermann, G. J. Med. Genet. (2004) [Pubmed]
  18. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Martin-Garcia, D., Aquino-Perna, A., Rodriguez-Vazquez, M., McCaughey, D., Eng, B., Nakamura, L.M., Waye, J.S. Am. J. Med. Genet. A (2004) [Pubmed]
  19. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. Jezela-Stanek, A., Małunowicz, E.M., Ciara, E., Popowska, E., Goryluk-Kozakiewicz, B., Spodar, K., Czerwiecka, M., Jezuita, J., Nowaczyk, M.J., Krajewska-Walasek, M. Clin. Genet. (2006) [Pubmed]
  20. Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. Nowaczyk, M.J., Farrell, S.A., Sirkin, W.L., Velsher, L., Krakowiak, P.A., Waye, J.S., Porter, F.D. Am. J. Med. Genet. (2001) [Pubmed]
  21. The human lamin B receptor/sterol reductase multigene family. Holmer, L., Pezhman, A., Worman, H.J. Genomics (1998) [Pubmed]
  22. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. Jira, P.E., Wanders, R.J., Smeitink, J.A., De Jong, J., Wevers, R.A., Oostheim, W., Tuerlings, J.H., Hennekam, R.C., Sengers, R.C., Waterham, H.R. Ann. Hum. Genet. (2001) [Pubmed]
  23. Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. Langius, F.A., Waterham, H.R., Romeijn, G.J., Oostheim, W., de Barse, M.M., Dorland, L., Duran, M., Beemer, F.A., Wanders, R.J., Poll-The, B.T. Am. J. Med. Genet. A (2003) [Pubmed]
  24. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. Loeffler, J., Utermann, G., Witsch-Baumgartner, M. Prenat. Diagn. (2002) [Pubmed]
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