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Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_001360 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. ORF Sequence $414.12
Peptide Services
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RefSeq Version NM_001360.2, 119943111
Length 2665 bp
Structure linear
Update Date 17-APR-2013
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.[provided by RefSeq, Aug 2009].


Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

RefSeq NP_001351.2
CDS 274..1701
Misc Feature(1)193..195
Misc Feature(2)193..195
Misc Feature(3)313..315
Misc Feature(4)313..315
Misc Feature(5)391..453
Misc Feature(6)550..1698
Misc Feature(7)733..795
Misc Feature(8)802..864
Misc Feature(9)1069..1131
Misc Feature(10)1189..1251
Misc Feature(11)1264..1326
Misc Feature(12)1531..1593
Exon (1)1..142
Gene:DHCR7
Gene Synonym:SLOS
Exon (2)143..267
Gene:DHCR7
Gene Synonym:SLOS
Exon (3)268..371
Gene:DHCR7
Gene Synonym:SLOS
Exon (4)372..594
Gene:DHCR7
Gene Synonym:SLOS
Exon (5)595..685
Gene:DHCR7
Gene Synonym:SLOS
Exon (6)686..899
Gene:DHCR7
Gene Synonym:SLOS
Exon (7)900..1104
Gene:DHCR7
Gene Synonym:SLOS
Exon (8)1105..1236
Gene:DHCR7
Gene Synonym:SLOS
Exon (9)1237..2665
Gene:DHCR7
Gene Synonym:SLOS
Translation MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
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Position Chain Variation Link
complement(49)-dbSNP:
complement(49)-g, c, adbSNP:4944946
complement(79)-c, adbSNP:141057811
complement(239)-g, adbSNP:75974711
complement(240)-c, adbSNP:145915789
complement(251)-g, adbSNP:12573951
complement(274)-g, adbSNP:104886033
complement(276)-g, adbSNP:121909767
complement(287)-t, cdbSNP:1127869
complement(288)-t, cdbSNP:147038941
complement(298)-t, adbSNP:115595829
complement(301)-g, cdbSNP:139166382
complement(318)-t, cdbSNP:150214075
complement(342)-g, adbSNP:199798127
complement(343)-c, adbSNP:146867923
complement(350)-t, gdbSNP:199815542
complement(362)-g, cdbSNP:200334114
complement(399)-dbSNP:
complement(399)-g, adbSNP:150928869
complement(400)-t, cdbSNP:200984695
complement(404)-g, adbSNP:142897396
complement(412)-g, adbSNP:140721259
complement(422)-c, adbSNP:104886034
complement(424)-t, cdbSNP:104886035
complement(445)-g, adbSNP:104886032
complement(449)-t, gdbSNP:104886036
complement(458)-t, adbSNP:104886037
complement(462)-t, g, adbSNP:1044482
complement(472)-t, cdbSNP:143999854
complement(476)-t, cdbSNP:104886038
complement(480)-g, adbSNP:1790334
complement(481)-t, cdbSNP:144512551
complement(495)-g, adbSNP:183441430
complement(504)-g, adbSNP:4316537
complement(551)-t, cdbSNP:80338853
complement(562)-t, cdbSNP:150563256
complement(565)-t, cdbSNP:104886039
complement(569)-t, cdbSNP:104886041
complement(594)-g, cdbSNP:104886040
complement(599)-dbSNP:
complement(599)-t, cdbSNP:121912195
complement(629)-t, adbSNP:28938174
complement(633)-t, cdbSNP:201227366
complement(649)-t, cdbSNP:143587828
complement(658)-t, cdbSNP:138215017
complement(672)-g, adbSNP:147424205
complement(673)-c, adbSNP:201466849
complement(711)-dbSNP:
complement(711)-g, c, adbSNP:949177
complement(725)-g, c, adbSNP:11555217
complement(726)-g, adbSNP:104894213
complement(734)-g, cdbSNP:143312232
complement(744)-g, cdbSNP:149164866
complement(779)-t, cdbSNP:80338855
complement(780)-t, cdbSNP:138185442
complement(782)-g, cdbSNP:150459687
complement(795)-g, adbSNP:140648594
complement(816)-g, cdbSNP:146839126
complement(822)-g, adbSNP:115446684
complement(843)-g, adbSNP:74909468
complement(855)-g, adbSNP:150603941
complement(856)-t, cdbSNP:151170252
complement(859)-t, cdbSNP:200474791
complement(860)-g, adbSNP:142138656
complement(931)-dbSNP:
complement(931)-t, gdbSNP:200659923
complement(956)-t, cdbSNP:201556114
complement(992)-t, cdbSNP:148609143
complement(997)-t, cdbSNP:80338856
complement(998)-g, adbSNP:80338857
complement(1002)-g, adbSNP:145284180
complement(1003)-g, adbSNP:121909764
complement(1008)-t, cdbSNP:12800
complement(1017)-t, gdbSNP:104894212
complement(1035)-g, c, adbSNP:113950278
complement(1038)-g, adbSNP:200132007
complement(1044)-t, cdbSNP:200232012
complement(1095)-t, gdbSNP:139787408
complement(1112)-dbSNP:
complement(1112)-g, adbSNP:121909766
complement(1113)-g, adbSNP:148468879
complement(1125)-t, gdbSNP:184297154
complement(1139)-t, cdbSNP:121909765
complement(1156)-t, cdbSNP:201574502
complement(1179)-t, g, cdbSNP:80338858
complement(1180)-t, cdbSNP:142808899
complement(1200)-t, gdbSNP:149974099
complement(1230)-t, cdbSNP:200157761
complement(1249)-dbSNP:
complement(1249)-t, gdbSNP:80338859
complement(1260)-g, adbSNP:145901607
complement(1261)-t, cdbSNP:139724817
complement(1277)-g, cdbSNP:77762671
complement(1281)-g, adbSNP:75225632
complement(1285)-t, cdbSNP:72954276
complement(1291)-t, cdbSNP:148081697
complement(1298)-g, adbSNP:199957106
complement(1327)-t, cdbSNP:80338860
complement(1328)-g, adbSNP:121909768
complement(1335)-g, cdbSNP:145651408
complement(1358)-t, cdbSNP:142213147
complement(1361)-t, cdbSNP:200539324
complement(1365)-t, cdbSNP:35946774
complement(1425)-g, adbSNP:145084285
complement(1427)-g, cdbSNP:12577137
complement(1431)-t, c, adbSNP:760241
complement(1471)-c, adbSNP:78523425
complement(1477)-t, cdbSNP:200099137
complement(1483)-g, adbSNP:61757582
complement(1501)-g, adbSNP:80338862
complement(1542)-g, adbSNP:145374203
complement(1545)-t, cdbSNP:909217
complement(1546)-g, adbSNP:760242
complement(1563)-g, cdbSNP:140791666
complement(1601)-g, cdbSNP:150923584
complement(1609)-g, adbSNP:145043679
complement(1611)-g, cdbSNP:201716149
complement(1614)-g, adbSNP:139721775
complement(1615)-g, adbSNP:80338864
complement(1627)-t, cdbSNP:140400648
complement(1635)-t, cdbSNP:147850435
complement(1639)-t, cdbSNP:201847193
complement(1641)-g, adbSNP:144562471
complement(1654)-g, adbSNP:199506852
complement(1657)-g, adbSNP:201270451
complement(1662)-g, adbSNP:200477386
complement(1678)-g, adbSNP:148660993
complement(1679)-t, cdbSNP:201150384
complement(1729)-c, adbSNP:114143715
complement(1743)-t, cdbSNP:201871263
complement(1758)-g, adbSNP:182965373
complement(1784)-t, cdbSNP:11555218
complement(1820)-t, cdbSNP:151230950
complement(1832)-g, adbSNP:143459841
complement(1860..1870)-, aggaacagagcdbSNP:72112762
complement(1862..1873)-, agcaaggaacagdbSNP:141483210
complement(1862)-t, cdbSNP:200229535
complement(1893)-g, adbSNP:115338563
complement(1901)-g, adbSNP:113188310
complement(1927)-g, adbSNP:185557595
complement(2005)-t, gdbSNP:1802125
complement(2059)-g, adbSNP:78575838
complement(2117)-t, cdbSNP:180885292
complement(2118..2119)-, tdbSNP:34995793
complement(2152)-t, cdbSNP:11233662
complement(2181)-t, cdbSNP:1790345
complement(2266)-t, cdbSNP:79320071
complement(2344)-t, cdbSNP:1044535
complement(2392..2393)-, gdbSNP:34258235
complement(2435)-t, g, c, adbSNP:7690
complement(2443)-t, gdbSNP:1802378
complement(2456)-g, adbSNP:58046295
complement(2491)-g, adbSNP:12407
complement(2528)-t, adbSNP:146774511
complement(2530)-t, cdbSNP:190840764
complement(2590)-t, cdbSNP:185936568
complement(2640)-t, cdbSNP:143699520
Gene SymbolDHCR7
Gene SynonymSLOS
Chromosome11
Locus Map11q13.4
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001163817 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. Full Length $766.18
ORF Sequence $414.12
NM_001360 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. Full Length $772.85
ORF Sequence $414.12
Title Common genetic variation in vitamin D metabolism is associated with liver stiffness .
Author Grunhage,F., Hochrath,K., Krawczyk,M., Hoblinger,A., Obermayer-Pietsch,B., Geisel,J., Trauner,M., Sauerbruch,T. and Lammert,F.
Journal Hepatology 56 (5), 1883-1891 (2012)
Title Associations between polymorphisms related to calcium metabolism and human height: the Tromso Study .
Author Jorde,R., Svartberg,J., Joakimsen,R.M. and Grimnes,G.
Journal Ann. Hum. Genet. 76 (3), 200-210 (2012)
Title ANKRD55 and DHCR7 are novel multiple sclerosis risk loci .
Author Alloza,I., Otaegui,D., de Lapuente,A.L., Antiguedad,A., Varade,J., Nunez,C., Arroyo,R., Urcelay,E., Fernandez,O., Leyva,L., Fedetz,M., Izquierdo,G., Lucas,M., Oliver-Martos,B., Alcina,A., Saiz,A., Blanco,Y., Comabella,M., Montalban,X., Olascoaga,J., Matesanz,F. and Vandenbroeck,K.
Journal Genes Immun. 13 (3), 253-257 (2012)
Title DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model .
Author Xu,L., Mirnics,K., Bowman,A.B., Liu,W., Da,J., Porter,N.A. and Korade,Z.
Journal Neurobiol. Dis. 45 (3), 923-929 (2012)
Title The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children .
Author Zhang,Y., Wang,X., Liu,Y., Qu,H., Qu,S., Wang,W. and Ren,L.
Journal Swiss Med Wkly 142, W13636 (2012)
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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