Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA.
| RefSeq Version | NM_001360.2, 119943111 |
| Length | 2665 bp |
| Structure | linear |
| Update Date | 23-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. |
| Product | 7-dehydrocholesterol reductase |
| Comment | Summary: This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein. Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein. |
| RefSeq | NP_001351.2 |
| CDS | 274..1701 | Exon (1) | 1..142 | Exon (2) | 1..142 | Exon (3) | 143..267 | Exon (4) | 268..371 | Exon (5) | 372..594 | Exon (6) | 595..685 | Exon (7) | 686..899 | Exon (8) | 900..1104 | Exon (9) | 1105..1236 | Exon (10) | 1237..2665 |
| Translation | MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA
CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK
FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL
LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL
FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
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| Position | Chain | Variation | Link |
| complement(49) | - | g, c, a | dbSNP:4944946 |
| complement(239) | - | g, a | dbSNP:75974711 |
| complement(251) | - | g, a | dbSNP:12573951 |
| 274 | + | a, g | dbSNP:104886033 |
| 276 | + | a, g | dbSNP:121909767 |
| 287 | + | c, t | dbSNP:1127869 |
| complement(298) | - | t, a | dbSNP:115595829 |
| 422 | + | a, c | dbSNP:104886034 |
| 424 | + | c, t | dbSNP:104886035 |
| 445 | + | a, g | dbSNP:104886032 |
| 449 | + | g, t | dbSNP:104886036 |
| complement(455) | - | c, a | dbSNP:117184965 |
| 458 | + | a, t | dbSNP:104886037 |
| 462 | + | a, g, t | dbSNP:1044482 |
| 476 | + | c, t | dbSNP:104886038 |
| complement(480) | - | g, a | dbSNP:1790334 |
| complement(504) | - | g, a | dbSNP:4316537 |
| 551 | + | c, t | dbSNP:80338853 |
| 565 | + | c, t | dbSNP:104886039 |
| 569 | + | c, t | dbSNP:104886041 |
| 594 | + | c, g | dbSNP:104886040 |
| 599 | + | c, t | dbSNP:121912195 |
| 629 | + | a, t | dbSNP:28938174 |
| complement(711) | - | g, c, a | dbSNP:949177 |
| 725 | + | a, c, g | dbSNP:11555217 |
| 726 | + | a, g | dbSNP:104894213 |
| 779 | + | c, t | dbSNP:80338855 |
| complement(822) | - | g, a | dbSNP:115446684 |
| complement(843) | - | g, a | dbSNP:74909468 |
| complement(899) | - | , largedeletion | dbSNP:71733526 |
| 997 | + | c, t | dbSNP:80338856 |
| 998 | + | a, g | dbSNP:80338857 |
| 1003 | + | a, g | dbSNP:121909764 |
| 1008 | + | c, t | dbSNP:12800 |
| 1017 | + | g, t | dbSNP:104894212 |
| complement(1035) | - | g, c | dbSNP:113950278 |
| 1112 | + | a, g | dbSNP:121909766 |
| 1139 | + | c, t | dbSNP:121909765 |
| 1179 | + | c, g | dbSNP:80338858 |
| 1249 | + | g, t | dbSNP:80338859 |
| complement(1277) | - | g, c | dbSNP:77762671 |
| complement(1281) | - | g, a | dbSNP:75225632 |
| complement(1285) | - | t, c | dbSNP:72954276 |
| 1327 | + | c, t | dbSNP:80338860 |
| 1328 | + | a, g | dbSNP:121909768 |
| complement(1365) | - | t, c | dbSNP:35946774 |
| complement(1427) | - | g, c | dbSNP:12577137 |
| 1431 | + | a, c, t | dbSNP:760241 |
| complement(1471) | - | c, a | dbSNP:78523425 |
| complement(1480) | - | g, c | dbSNP:117974579 |
| complement(1483) | - | t, g, c, a | dbSNP:61757582 |
| 1501 | + | a, g | dbSNP:80338862 |
| 1545 | + | c, t | dbSNP:909217 |
| 1546 | + | a, g | dbSNP:760242 |
| 1615 | + | a, g | dbSNP:80338864 |
| complement(1729) | - | c, a | dbSNP:114143715 |
| 1784 | + | c, t | dbSNP:11555218 |
| complement(1860..1870) | - | , aggaacagagc | dbSNP:72112762 |
| complement(1862) | - | g, a | dbSNP:76414000 |
| complement(1893) | - | g, a | dbSNP:115338563 |
| complement(1901) | - | g, a | dbSNP:113188310 |
| 2005 | + | g, t | dbSNP:1802125 |
| complement(2059) | - | g, a | dbSNP:78575838 |
| complement(2118..2119) | - | , t | dbSNP:34995793 |
| complement(2152) | - | t, c | dbSNP:11233662 |
| 2181 | + | c, t | dbSNP:1790345 |
| complement(2266) | - | t, c | dbSNP:79320071 |
| 2344 | + | c, t | dbSNP:1044535 |
| complement(2390..2391) | - | , g | dbSNP:34258235 |
| 2435 | + | a, c, g, t | dbSNP:7690 |
| 2443 | + | g, t | dbSNP:1802378 |
| complement(2456) | - | g, a | dbSNP:58046295 |
| complement(2488) | - | t, g | dbSNP:75979668 |
| complement(2491) | - | g, a | dbSNP:12407 |
| Gene Symbol | DHCR7 |
| Gene Synonym | SLOS |
| Chromosome | 11 |
| Locus Map | 11q13.4 |
| All Transcripts | NM_001360 , NM_001163817 |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome . |
| Author | Koo,G., Conley,S.K., Wassif,C.A. and Porter,F.D. |
| Journal | Am. J. Med. Genet. A 152A (8), 2094-2098 (2010) |
| Title | Common genetic determinants of vitamin D insufficiency: a genome-wide association study . |
| Author | Wang,T.J., Zhang,F., Richards,J.B., Kestenbaum,B., van Meurs,J.B., Berry,D., Kiel,D.P., Streeten,E.A., Ohlsson,C., Koller,D.L., Peltonen,L., Cooper,J.D., O'Reilly,P.F., Houston,D.K., Glazer,N.L., Vandenput,L., Peacock,M., Shi,J., Rivadeneira,F., McCarthy,M.I., Anneli,P., de Boer,I.H., Mangino,M., Kato,B., Smyth,D.J., Booth,S.L., Jacques,P.F., Burke,G.L., Goodarzi,M., Cheung,C.L., Wolf,M., Rice,K., Goltzman,D., Hidiroglou,N., Ladouceur,M., Wareham,N.J., Hocking,L.J., Hart,D., Arden,N.K., Cooper,C., Malik,S., Fraser,W.D., Hartikainen,A.L., Zhai,G., Macdonald,H.M., Forouhi,N.G., Loos,R.J., Reid,D.M., Hakim,A., Dennison,E., Liu,Y., Power,C., Stevens,H.E., Jaana,L., Vasan,R.S., Soranzo,N., Bojunga,J., Psaty,B.M., Lorentzon,M., Foroud,T., Harris,T.B., Hofman,A., Jansson,J.O., Cauley,J.A., Uitterlinden,A.G., Gibson,Q., Jarvelin,M.R., Karasik,D., Siscovick,D.S., Econs,M.J., Kritchevsky,S.B., Florez,J.C., Todd,J.A., Dupuis,J., Hypponen,E. and Spector,T.D. |
| Journal | Lancet 376 (9736), 180-188 (2010) |
| Title | Genome-wide association study of circulating vitamin D levels . |
| Author | Ahn,J., Yu,K., Stolzenberg-Solomon,R., Simon,K.C., McCullough,M.L., Gallicchio,L., Jacobs,E.J., Ascherio,A., Helzlsouer,K., Jacobs,K.B., Li,Q., Weinstein,S.J., Purdue,M., Virtamo,J., Horst,R., Wheeler,W., Chanock,S., Hunter,D.J., Hayes,R.B., Kraft,P. and Albanes,D. |
| Journal | Hum. Mol. Genet. 19 (13), 2739-2745 (2010) |
| Title | Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia . |
| Author | Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C. |
| Journal | PLoS ONE 5 (7), E11493 (2010) |
| Title | Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene . |
| Author | 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. and Wanders,R.J. |
| Journal | Am. J. Hum. Genet. 63 (2), 329-338 (1998) |
| Title | Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome . |
| Author | Fitzky,B.U., Witsch-Baumgartner,M., Erdel,M., Lee,J.N., Paik,Y.K., Glossmann,H., Utermann,G. and Moebius,F.F. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 95 (14), 8181-8186 (1998) |
| Title | Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome . |
| Author | Wassif,C.A., Maslen,C., Kachilele-Linjewile,S., Lin,D., Linck,L.M., Connor,W.E., Steiner,R.D. and Porter,F.D. |
| Journal | Am. J. Hum. Genet. 63 (1), 55-62 (1998) |
| Title | Molecular cloning and expression of the human delta7-sterol reductase . |
| Author | Moebius,F.F., Fitzky,B.U., Lee,J.N., Paik,Y.K. and Glossmann,H. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 95 (4), 1899-1902 (1998) |
| Title | Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes . |
| Author | Shefer,S., Salen,G., Batta,A.K., Honda,A., Tint,G.S., Irons,M., Elias,E.R., Chen,T.C. and Holick,M.F. |
| Journal | J. Clin. Invest. 96 (4), 1779-1785 (1995) |
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