Knowledge (XXG)

7-Dehydrocholesterol reductase

Source đź“ť

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Linck LM, Hayflick SJ, Lin DS, Battaile KP, Ginat S, Burlingame T, Gibson KM, Honda M, Honda A, Salen G, Tint GS, Connor WE, Steiner RD (Mar 2000). "Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase
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The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the ultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in
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Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD (Sep 2000). "Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping".
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Löffler J, Trojovsky A, Casati B, Kroisel PM, Utermann G (Nov 2000). "Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis".
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Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR (May 2001). "Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome".
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Witsch-Baumgartner M, Ciara E, Löffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky BU, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, Utermann G (Jan 2001).
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Zafalon, Rafael V. A.; Risolia, Larissa W.; Pedrinelli, Vivian; Vendramini, Thiago H. A.; Rodrigues, Roberta B. A.; Amaral, Andressa R.; Kogika, Marcia M.; Brunetto, Marcio A. (January 2020).
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Nowaczyk MJ, Farrell SA, Sirkin WL, Velsher L, Krakowiak PA, Waye JS, Porter FD (Sep 2001). "Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G→C genotype".
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Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G (Feb 2000).
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De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G (Dec 1999).
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drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development.
3903: 3077: 3072: 802: 783: 77: 3491: 2903: 2849: 2509:"Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations" 1573: 1429: 3267: 3017: 3923: 1731: 1713: 3361: 3357: 2786: 2333:"Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome" 2290:"Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations" 2685: 1571: 1427: 2210:
Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ (Aug 1998).
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Waterham HR, Wanders RJ (Dec 2000). "Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome".
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Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF (Jul 1998).
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Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (Jul 1998).
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Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (Jul 1998).
1330: 3683: 3602: 3429: 2870: 2651: 1925:"Vitamin D metabolism in dogs and cats and its relation to diseases not associated with bone metabolism" 1238: 143: 3755: 3439: 3371: 3042: 2923: 2170: 2074: 1779: 1652: 1355: 1173: 44: 3719: 2913: 2679: 1266: 1168: 1041: 1037: 1027: 1023: 1019: 1015: 992: 966: 962: 952: 948: 944: 940: 917: 3292: 2116:"Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome" 1827:"Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome" 1190: 3652: 3517: 3228: 2744: 2736: 2538: 2400: 2319: 2018:
Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF (Oct 1995).
89: 3114: 1011: 996: 936: 921: 2159:"Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome" 3928: 3544: 3419: 3239: 3169: 2834: 2815: 2632: 2603: 2573: 2530: 2495: 2465: 2435: 2392: 2362: 2311: 2276: 2241: 2212:"Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene" 2198: 2145: 2102: 2049: 2006: 1985: 1946: 1905: 1856: 1807: 1257: 513: 506: 37: 3698: 3693: 3667: 3595: 3424: 3247: 2767: 2720: 2624: 2595: 2563: 2520: 2487: 2457: 2425: 2384: 2352: 2344: 2301: 2266: 2231: 2223: 2188: 2178: 2135: 2127: 2092: 2082: 2039: 2031: 1977: 1936: 1895: 1887: 1846: 1838: 1797: 1787: 348: 279: 223: 178: 1226: 107: 85: 3745: 3729: 3642: 2999: 323: 1202: 2174: 2078: 1783: 1561: 1417: 1161: 3894: 3783: 3724: 3323: 3109: 3028: 2807: 2357: 2332: 2236: 2211: 2140: 2115: 1900: 1875: 1851: 1826: 1634: 1612: 1595: 1301: 2044: 2019: 1997:
Nowaczyk MJ, Nakamura LM, Waye JS (Dec 2001). "DHCR7 and Smith-Lemli-Opitz syndrome".
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oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
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have higher-than-usual activity of this enzyme, causing an inability to synthesize
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Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS (May 2000).
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National Center for Biotechnology Information, U.S. National Library of Medicine
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National Center for Biotechnology Information, U.S. National Library of Medicine
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Proceedings of the National Academy of Sciences of the United States of America
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Proceedings of the National Academy of Sciences of the United States of America
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Proceedings of the National Academy of Sciences of the United States of America
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Click on genes, proteins and metabolites below to link to respective articles.
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Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
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10.1002/(SICI)1097-0223(200003)20:3<238::AID-PD792>3.0.CO;2-W
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10.1002/1096-8628(20010915)103:1<75::AID-AJMG1502>3.0.CO;2-R
1214: 3468: 3258: 3253: 3148: 3143: 3059: 2989: 2754: 2732: 2063:"Molecular cloning and expression of the human delta7-sterol reductase" 1768:"Molecular cloning and expression of the human delta7-sterol reductase" 1343: 1233: 1125: 859: 814: 2568: 2551: 2492:
10.1002/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9
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10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R
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Nowaczyk MJ, Heshka T, Eng B, Feigenbaum AJ, Waye JS (Apr 2001).
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Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998).
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Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998).
1221: 1132: 61: 3591: 3296: 2689: 522: 2255:"The human lamin B receptor/sterol reductase multigene family" 1386: 1382: 2552:"DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome" 1560: 1416: 2652:
GeneReviews/NIH/NCBI/UW entry on Smith-Lemli-Opitz Syndrome
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The interactive pathway map can be edited at WikiPathways:
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Dihydroxymethyloxo-tetrahydroquinoline dehydrogenase
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integral component of endoplasmic reticulum membrane
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2659:at the U.S. National Library of Medicine 2567: 2524: 2429: 2356: 2305: 2270: 2235: 2192: 2182: 2139: 2096: 2086: 2043: 1940: 1899: 1850: 1801: 1791: 1393:due to the lack of 7-dehydrocholesterol. 3902:This article incorporates text from the 2904:Farnesyl-diphosphate farnesyltransferase 1747: 1745: 607:intracellular membrane-bounded organelle 3885: 2850:Isopentenyl-diphosphate delta isomerase 1663: 1625: 571:7-dehydrocholesterol reductase activity 3268:Steroidogenic acute regulatory protein 1142: 48:, SLOS, 7-dehydrocholesterol reductase 18: 2024:The Journal of Clinical Investigation 283: 244: 239: 182: 141: 136: 7: 3358:Enoyl-acyl carrier protein reductase 2617:American Journal of Medical Genetics 2556:American Journal of Medical Genetics 2480:American Journal of Medical Genetics 2450:American Journal of Medical Genetics 713:brassinosteroid biosynthetic process 3577:3-oxo-5beta-steroid 4-dehydrogenase 3572:Isovaleryl coenzyme A dehydrogenase 2845:Pyrophosphomevalonate decarboxylase 2763:Acetyl-Coenzyme A acetyltransferase 1999:Clinical and Investigative Medicine 2513:European Journal of Human Genetics 2337:American Journal of Human Genetics 2294:European Journal of Human Genetics 2216:American Journal of Human Genetics 2120:American Journal of Human Genetics 1831:American Journal of Human Genetics 1594:|alt=Vitamin D Synthesis Pathway ( 982: 907: 883: 864: 838: 819: 793: 774: 501: 419: 357: 336: 14: 3450:Pyrroloquinoline-quinone synthase 1128:that in humans is encoded by the 16:Mammalian protein found in humans 3888: 1892:10.1111/j.1399-0004.2005.00515.x 1374:A deficiency is associated with 708:cholesterol biosynthetic process 576:sterol delta7 reductase activity 512: 505: 267: 260: 254: 231: 166: 159: 153: 128: 3018:Cholesterol side-chain cleavage 2962:24-Dehydrocholesterol reductase 2792:3-hydroxybutyrate dehydrogenase 3410:Coproporphyrinogen III oxidase 3367:7-Dehydrocholesterol reductase 2943:7-Dehydrocholesterol reductase 2657:7-dehydrocholesterol+reductase 2375:activity in chorionic villi". 1146:7-dehydrocholesterol reductase 1118:7-Dehydrocholesterol reductase 597:endoplasmic reticulum membrane 592:integral component of membrane 523:More reference expression data 485:More reference expression data 1: 3445:Tryptophan alpha,beta-oxidase 3278:Reverse cholesterol transport 2866:Dimethylallyltranstransferase 1982:10.1016/s1388-1981(00)00159-1 1611:Vitamin D Synthesis Pathway ( 1350:catalyzing the production of 673:cholesterol metabolic process 658:multicellular organism growth 252: 151: 3924:Genes on human chromosome 11 3405:Dihydroorotate dehydrogenase 703:steroid biosynthetic process 3435:Tetrahydroberberine oxidase 3273:Cholesterol total synthesis 1874:Yu H, Patel SB (Nov 2005). 1346:encoded by this gene is an 653:sterol biosynthetic process 3950: 3567:Glutaryl-CoA dehydrogenase 3455:L-galactonolactone oxidase 3415:Protoporphyrinogen oxidase 2985:Cholesterol 7α-hydroxylase 2933:Lanosterol 14α-demethylase 2678:gene details page in the 1635:"VitaminDSynthesis_WP1531" 1376:Smith–Lemli–Opitz syndrome 678:post-embryonic development 3766:Michaelis–Menten kinetics 3523:Butyryl-CoA dehydrogenase 3377:2,4 Dienoyl-CoA reductase 2938:Sterol-C5-desaturase-like 2600:10.1017/S0003480001008600 1732:"Mouse PubMed Reference:" 1714:"Human PubMed Reference:" 1291: 1104: 1099: 1095: 1088: 1072: 1053: 1034: 989: 978: 959: 914: 903: 890: 886: 871: 867: 858: 845: 841: 826: 822: 813: 800: 796: 781: 777: 768: 753: 746: 742: 726: 648:steroid metabolic process 541: 537: 520: 504: 495: 482: 431: 422: 369: 360: 330: 322: 318: 301: 288: 251: 230: 221: 217: 200: 187: 150: 127: 118: 114: 105: 100: 55: 52: 42: 35: 30: 26: 21: 3658:Diffusion-limited enzyme 2840:Phosphomevalonate kinase 2661:Medical Subject Headings 2588:Annals of Human Genetics 2418:Human Molecular Genetics 1066:Chr 7: 143.38 – 143.4 Mb 1059:Chr 11: 71.43 – 71.45 Mb 683:blood vessel development 3477:Succinate dehydrogenase 2526:10.1038/sj.ejhg.5200579 2307:10.1038/sj.ejhg.5200390 2184:10.1073/pnas.95.14.8181 1397:Interactive pathway map 561:oxidoreductase activity 3528:Acyl CoA dehydrogenase 2909:Squalene monooxygenase 2272:10.1006/geno.1998.5615 2088:10.1073/pnas.95.4.1899 1793:10.1073/pnas.95.4.1899 1588: 1444: 622:nuclear outer membrane 3751:Eadie–Hofstee diagram 3684:Allosteric regulation 3430:Dihydrouracil oxidase 3328:CH–CH oxidoreductases 2990:Sterol 27-hydroxylase 2871:Geranyl pyrophosphate 1587: 1443: 617:endoplasmic reticulum 144:Chromosome 11 (human) 3761:Lineweaver–Burk plot 3440:Secologanin synthase 3372:Biliverdin reductase 2924:7-Dehydrocholesterol 2672:genome location and 2431:10.1093/hmg/9.9.1385 1653:Steroidogenic enzyme 1356:7-dehydrocholesterol 643:cell differentiation 455:skin of external ear 377:right adrenal cortex 246:Chromosome 7 (mouse) 3362:Enoyl ACP reductase 2914:Lanosterol synthase 2680:UCSC Genome Browser 2175:1998PNAS...95.8181F 2079:1998PNAS...95.1899M 1784:1998PNAS...95.1899M 389:left adrenal cortex 385:islet of Langerhans 373:right lobe of liver 3906:, which is in the 3720:Enzyme superfamily 3653:Enzyme promiscuity 3518:Fumarate reductase 3229:Steroid metabolism 2745:Mevalonate pathway 2737:steroid metabolism 2377:Prenatal Diagnosis 1589: 1445: 848:ENSMUSG00000058454 636:Biological process 585:Cellular component 549:Molecular function 451:left lobe of liver 3876: 3875: 3585: 3584: 3511:: Other acceptors 3420:Bilirubin oxidase 3290: 3289: 3286: 3285: 3240:Steroid sulfatase 3217: 3216: 2970: 2969: 2879: 2878: 2835:Mevalonate kinase 2816:HMG-CoA reductase 2569:10.1002/ajmg.1227 2036:10.1172/JCI118223 1942:10.1111/jpn.13259 1880:Clinical Genetics 1340: 1339: 1336: 1335: 1239:metabolic pathway 1115: 1114: 1111: 1110: 1084: 1083: 1049: 1048: 1004: 1003: 974: 973: 929: 928: 899: 898: 880: 879: 854: 853: 835: 834: 809: 808: 790: 789: 738: 737: 533: 532: 529: 528: 491: 490: 478: 477: 416: 415: 409:corpus epididymis 314: 313: 213: 212: 94:DHCR7 - orthologs 3941: 3893: 3892: 3884: 3756:Hanes–Woolf plot 3699:Enzyme activator 3694:Enzyme inhibitor 3668:Enzyme catalysis 3612: 3605: 3598: 3589: 3425:Acyl-CoA oxidase 3317: 3310: 3303: 3294: 3248:sulfotransferase 3209: 3165: 3157: 3131: 3093: 3068: 3005: 2891: 2770:(regulated step) 2768:HMG-CoA synthase 2750: 2721:lipid metabolism 2710: 2703: 2696: 2687: 2640: 2611: 2594:(Pt 3): 229–36. 2581: 2571: 2546: 2528: 2503: 2473: 2443: 2433: 2408: 2370: 2360: 2327: 2309: 2284: 2274: 2249: 2239: 2206: 2196: 2186: 2153: 2143: 2110: 2100: 2090: 2057: 2047: 2014: 1993: 1955: 1954: 1944: 1920: 1914: 1913: 1903: 1871: 1865: 1864: 1854: 1822: 1816: 1815: 1805: 1795: 1763: 1757: 1756: 1749: 1740: 1739: 1728: 1722: 1721: 1710: 1704: 1694: 1683: 1673: 1639: 1638: 1630: 1556: 1551: 1546: 1541: 1536: 1531: 1526: 1521: 1516: 1511: 1506: 1501: 1496: 1491: 1486: 1481: 1476: 1471: 1466: 1461: 1456: 1451: 1293: 1143: 1120:, also known as 1097: 1096: 1068: 1061: 1044: 1008: 999: 983: 979:RefSeq (protein) 969: 933: 924: 908: 884: 865: 839: 820: 794: 775: 744: 668:lipid metabolism 663:lung development 539: 525: 516: 509: 502: 487: 427: 425:Top expressed in 420: 393:secondary oocyte 365: 363:Top expressed in 358: 337: 320: 310: 297: 286: 271: 264: 258: 247: 235: 219: 209: 196: 185: 170: 163: 157: 146: 132: 116: 110: 96: 47: 40: 19: 3949: 3948: 3944: 3943: 3942: 3940: 3939: 3938: 3914: 3913: 3899: 3887: 3879: 3877: 3872: 3784:Oxidoreductases 3770: 3746:Enzyme kinetics 3734: 3730:List of enzymes 3703: 3672: 3643:Catalytic triad 3621: 3616: 3586: 3581: 3503: 3459: 3386: 3335: 3324:Oxidoreductases 3321: 3291: 3282: 3222:Other/ungrouped 3213: 3186: 3144:17α-Hydroxylase 3119: 3115:11β-Hydroxylase 3060:17α-Hydroxylase 3029:corticosteroids 3022: 3000:Steroidogenesis 2994: 2966: 2947: 2918: 2875: 2854: 2820: 2801: 2773: 2739: 2714: 2648: 2643: 2614: 2584: 2549: 2506: 2476: 2446: 2411: 2373: 2330: 2287: 2252: 2209: 2156: 2113: 2073:(4): 1899–902. 2060: 2017: 1996: 1976:(1–3): 340–56. 1967: 1963: 1961:Further reading 1958: 1922: 1921: 1917: 1873: 1872: 1868: 1824: 1823: 1819: 1778:(4): 1899–902. 1765: 1764: 1760: 1751: 1750: 1743: 1730: 1729: 1725: 1712: 1711: 1707: 1695: 1686: 1674: 1665: 1661: 1649: 1644: 1643: 1642: 1633: 1631: 1627: 1622: 1621: 1620: 1610: 1605: 1604: 1603: 1593: 1592: 1591: 1590: 1586: 1558: 1557: 1554: 1552: 1549: 1547: 1544: 1542: 1539: 1537: 1534: 1532: 1529: 1527: 1524: 1522: 1519: 1517: 1514: 1512: 1509: 1507: 1504: 1502: 1499: 1497: 1494: 1492: 1489: 1487: 1484: 1482: 1479: 1477: 1474: 1472: 1469: 1467: 1464: 1462: 1459: 1457: 1454: 1452: 1449: 1446: 1442: 1399: 1372: 1141: 1106:View/Edit Mouse 1101:View/Edit Human 1064: 1057: 1054:Location (UCSC) 1040: 1036: 1030: 1026: 1022: 1018: 1014: 995: 991: 965: 961: 955: 951: 947: 943: 939: 920: 916: 829:ENSG00000172893 722: 631: 580: 521: 511: 510: 483: 474: 469: 465: 461: 457: 453: 449: 445: 441: 437: 423: 412: 407: 405:skin of abdomen 403: 399: 395: 391: 387: 383: 379: 375: 361: 305: 292: 284: 274: 273: 272: 265: 245: 222:Gene location ( 204: 191: 183: 173: 172: 171: 164: 142: 119:Gene location ( 106: 56: 43: 36: 17: 12: 11: 5: 3947: 3945: 3937: 3936: 3934:Human proteins 3931: 3926: 3916: 3915: 3898: 3897: 3874: 3873: 3871: 3870: 3857: 3844: 3831: 3818: 3805: 3792: 3778: 3776: 3772: 3771: 3769: 3768: 3763: 3758: 3753: 3748: 3742: 3740: 3736: 3735: 3733: 3732: 3727: 3722: 3717: 3711: 3709: 3708:Classification 3705: 3704: 3702: 3701: 3696: 3691: 3686: 3680: 3678: 3674: 3673: 3671: 3670: 3665: 3660: 3655: 3650: 3645: 3640: 3635: 3629: 3627: 3623: 3622: 3617: 3615: 3614: 3607: 3600: 3592: 3583: 3582: 3580: 3579: 3574: 3569: 3564: 3563: 3562: 3557: 3552: 3542: 3541: 3540: 3535: 3525: 3520: 3514: 3512: 3505: 3504: 3502: 3501: 3500: 3499: 3494: 3489: 3484: 3473: 3471: 3461: 3460: 3458: 3457: 3452: 3447: 3442: 3437: 3432: 3427: 3422: 3417: 3412: 3407: 3401: 3399: 3388: 3387: 3385: 3384: 3379: 3374: 3369: 3364: 3354: 3352: 3337: 3336: 3322: 3320: 3319: 3312: 3305: 3297: 3288: 3287: 3284: 3283: 3281: 3280: 3275: 3270: 3264: 3263: 3262: 3261: 3256: 3244: 3243: 3242: 3225: 3223: 3219: 3218: 3215: 3214: 3212: 3211: 3203: 3197: 3195: 3188: 3187: 3185: 3184: 3183: 3182: 3177: 3167: 3159: 3151: 3146: 3140: 3138: 3128: 3121: 3120: 3118: 3117: 3112: 3110:21-Hydroxylase 3107: 3106: 3105: 3100: 3083: 3082: 3081: 3080: 3075: 3062: 3046: 3045: 3043:18-Hydroxylase 3033: 3031: 3024: 3023: 3021: 3020: 3014: 3012: 3002: 2996: 2995: 2993: 2992: 2987: 2981: 2979: 2972: 2971: 2968: 2967: 2965: 2964: 2958: 2956: 2949: 2948: 2946: 2945: 2940: 2935: 2929: 2927: 2920: 2919: 2917: 2916: 2911: 2906: 2900: 2898: 2888: 2881: 2880: 2877: 2876: 2874: 2873: 2868: 2862: 2860: 2856: 2855: 2853: 2852: 2847: 2842: 2837: 2831: 2829: 2822: 2821: 2819: 2818: 2812: 2810: 2808:Mevalonic acid 2803: 2802: 2800: 2799: 2794: 2789: 2783: 2781: 2775: 2774: 2772: 2771: 2765: 2759: 2757: 2747: 2741: 2740: 2715: 2713: 2712: 2705: 2698: 2690: 2684: 2683: 2664: 2654: 2647: 2646:External links 2644: 2642: 2641: 2612: 2582: 2547: 2504: 2474: 2444: 2424:(9): 1385–91. 2409: 2371: 2349:10.1086/302760 2328: 2285: 2250: 2228:10.1086/301982 2207: 2169:(14): 8181–6. 2154: 2132:10.1086/301936 2111: 2058: 2030:(4): 1779–85. 2015: 1994: 1964: 1962: 1959: 1957: 1956: 1935:(1): 322–342. 1915: 1866: 1843:10.1086/301936 1817: 1758: 1741: 1723: 1705: 1684: 1662: 1660: 1657: 1656: 1655: 1648: 1645: 1641: 1640: 1624: 1623: 1607: 1606: 1559: 1553: 1548: 1543: 1538: 1533: 1528: 1523: 1518: 1513: 1508: 1503: 1498: 1493: 1488: 1483: 1478: 1473: 1468: 1463: 1458: 1453: 1448: 1447: 1415: 1414: 1413: 1412: 1410: 1409: 1408: 1407: 1406: 1400: 1398: 1395: 1371: 1368: 1338: 1337: 1334: 1333: 1328: 1322: 1321: 1316: 1310: 1309: 1304: 1298: 1297: 1289: 1288: 1279: 1273: 1272: 1261: 1254: 1253: 1248: 1242: 1241: 1236: 1230: 1229: 1224: 1218: 1217: 1212: 1206: 1205: 1200: 1194: 1193: 1188: 1182: 1181: 1177: 1176: 1171: 1165: 1164: 1159: 1153: 1152: 1148: 1147: 1140: 1137: 1113: 1112: 1109: 1108: 1103: 1093: 1092: 1086: 1085: 1082: 1081: 1079: 1077: 1070: 1069: 1062: 1055: 1051: 1050: 1047: 1046: 1032: 1031: 1005: 1002: 1001: 987: 986: 980: 976: 975: 972: 971: 957: 956: 930: 927: 926: 912: 911: 905: 901: 900: 897: 896: 888: 887: 881: 878: 877: 869: 868: 862: 856: 855: 852: 851: 843: 842: 836: 833: 832: 824: 823: 817: 811: 810: 807: 806: 798: 797: 791: 788: 787: 779: 778: 772: 766: 765: 760: 755: 751: 750: 740: 739: 736: 735: 724: 723: 721: 720: 715: 710: 705: 700: 695: 690: 685: 680: 675: 670: 665: 660: 655: 650: 645: 639: 637: 633: 632: 630: 629: 624: 619: 614: 609: 604: 599: 594: 588: 586: 582: 581: 579: 578: 573: 568: 563: 558: 552: 550: 546: 545: 535: 534: 531: 530: 527: 526: 518: 517: 499: 493: 492: 489: 488: 480: 479: 476: 475: 473: 472: 468: 464: 460: 456: 452: 448: 444: 440: 436: 432: 429: 428: 417: 414: 413: 411: 410: 406: 402: 398: 394: 390: 386: 382: 378: 374: 370: 367: 366: 354: 353: 345: 334: 328: 327: 324:RNA expression 316: 315: 312: 311: 303: 299: 298: 290: 287: 282: 276: 275: 266: 259: 253: 249: 248: 243: 237: 236: 228: 227: 215: 214: 211: 210: 202: 198: 197: 189: 186: 181: 175: 174: 165: 158: 152: 148: 147: 140: 134: 133: 125: 124: 112: 111: 104: 98: 97: 54: 50: 49: 41: 33: 32: 28: 27: 24: 23: 15: 13: 10: 9: 6: 4: 3: 2: 3946: 3935: 3932: 3930: 3927: 3925: 3922: 3921: 3919: 3912: 3911: 3909: 3908:public domain 3905: 3896: 3891: 3886: 3882: 3868: 3864: 3863: 3858: 3855: 3851: 3850: 3845: 3842: 3838: 3837: 3832: 3829: 3825: 3824: 3819: 3816: 3812: 3811: 3806: 3803: 3799: 3798: 3793: 3790: 3786: 3785: 3780: 3779: 3777: 3773: 3767: 3764: 3762: 3759: 3757: 3754: 3752: 3749: 3747: 3744: 3743: 3741: 3737: 3731: 3728: 3726: 3725:Enzyme family 3723: 3721: 3718: 3716: 3713: 3712: 3710: 3706: 3700: 3697: 3695: 3692: 3690: 3689:Cooperativity 3687: 3685: 3682: 3681: 3679: 3675: 3669: 3666: 3664: 3661: 3659: 3656: 3654: 3651: 3649: 3648:Oxyanion hole 3646: 3644: 3641: 3639: 3636: 3634: 3631: 3630: 3628: 3624: 3620: 3613: 3608: 3606: 3601: 3599: 3594: 3593: 3590: 3578: 3575: 3573: 3570: 3568: 3565: 3561: 3558: 3556: 3553: 3551: 3548: 3547: 3546: 3543: 3539: 3536: 3534: 3531: 3530: 3529: 3526: 3524: 3521: 3519: 3516: 3515: 3513: 3510: 3506: 3498: 3495: 3493: 3490: 3488: 3485: 3483: 3480: 3479: 3478: 3475: 3474: 3472: 3470: 3466: 3462: 3456: 3453: 3451: 3448: 3446: 3443: 3441: 3438: 3436: 3433: 3431: 3428: 3426: 3423: 3421: 3418: 3416: 3413: 3411: 3408: 3406: 3403: 3402: 3400: 3397: 3393: 3389: 3383: 3380: 3378: 3375: 3373: 3370: 3368: 3365: 3363: 3359: 3356: 3355: 3353: 3350: 3346: 3342: 3338: 3333: 3329: 3325: 3318: 3313: 3311: 3306: 3304: 3299: 3298: 3295: 3279: 3276: 3274: 3271: 3269: 3266: 3265: 3260: 3257: 3255: 3252: 3251: 3250: 3249: 3245: 3241: 3238: 3237: 3236: 3235: 3230: 3227: 3226: 3224: 3220: 3210: 3204: 3202: 3199: 3198: 3196: 3194: 3189: 3181: 3178: 3176: 3173: 3172: 3171: 3168: 3166: 3160: 3158: 3152: 3150: 3147: 3145: 3142: 3141: 3139: 3137: 3132: 3129: 3127: 3122: 3116: 3113: 3111: 3108: 3104: 3101: 3099: 3096: 3095: 3094: 3088: 3085: 3084: 3079: 3076: 3074: 3071: 3070: 3069: 3063: 3061: 3058: 3056: 3052: 3048: 3047: 3044: 3041: 3039: 3035: 3034: 3032: 3030: 3025: 3019: 3016: 3015: 3013: 3011: 3006: 3003: 3001: 2997: 2991: 2988: 2986: 2983: 2982: 2980: 2978: 2973: 2963: 2960: 2959: 2957: 2954: 2950: 2944: 2941: 2939: 2936: 2934: 2931: 2930: 2928: 2925: 2921: 2915: 2912: 2910: 2907: 2905: 2902: 2901: 2899: 2897: 2892: 2889: 2887: 2882: 2872: 2869: 2867: 2864: 2863: 2861: 2857: 2851: 2848: 2846: 2843: 2841: 2838: 2836: 2833: 2832: 2830: 2828: 2823: 2817: 2814: 2813: 2811: 2809: 2804: 2798: 2795: 2793: 2790: 2788: 2787:HMG-CoA lyase 2785: 2784: 2782: 2780: 2776: 2769: 2766: 2764: 2761: 2760: 2758: 2756: 2751: 2748: 2746: 2742: 2738: 2734: 2730: 2726: 2722: 2718: 2711: 2706: 2704: 2699: 2697: 2692: 2691: 2688: 2681: 2677: 2676: 2671: 2670: 2665: 2662: 2658: 2655: 2653: 2650: 2649: 2645: 2638: 2634: 2630: 2626: 2622: 2618: 2613: 2609: 2605: 2601: 2597: 2593: 2589: 2583: 2579: 2575: 2570: 2565: 2561: 2557: 2553: 2548: 2544: 2540: 2536: 2532: 2527: 2522: 2518: 2514: 2510: 2505: 2501: 2497: 2493: 2489: 2485: 2481: 2475: 2471: 2467: 2463: 2459: 2456:(3): 214–27. 2455: 2451: 2445: 2441: 2437: 2432: 2427: 2423: 2419: 2415: 2410: 2406: 2402: 2398: 2394: 2390: 2386: 2383:(3): 238–40. 2382: 2378: 2372: 2368: 2364: 2359: 2354: 2350: 2346: 2343:(2): 402–12. 2342: 2338: 2334: 2329: 2325: 2321: 2317: 2313: 2308: 2303: 2300:(8): 937–40. 2299: 2295: 2291: 2286: 2282: 2278: 2273: 2268: 2265:(3): 469–76. 2264: 2260: 2256: 2251: 2247: 2243: 2238: 2233: 2229: 2225: 2222:(2): 329–38. 2221: 2217: 2213: 2208: 2204: 2200: 2195: 2190: 2185: 2180: 2176: 2172: 2168: 2164: 2160: 2155: 2151: 2147: 2142: 2137: 2133: 2129: 2125: 2121: 2117: 2112: 2108: 2104: 2099: 2094: 2089: 2084: 2080: 2076: 2072: 2068: 2064: 2059: 2055: 2051: 2046: 2041: 2037: 2033: 2029: 2025: 2021: 2016: 2012: 2008: 2004: 2000: 1995: 1991: 1987: 1983: 1979: 1975: 1971: 1966: 1965: 1960: 1952: 1948: 1943: 1938: 1934: 1930: 1926: 1919: 1916: 1911: 1907: 1902: 1897: 1893: 1889: 1886:(5): 383–91. 1885: 1881: 1877: 1870: 1867: 1862: 1858: 1853: 1848: 1844: 1840: 1836: 1832: 1828: 1821: 1818: 1813: 1809: 1804: 1799: 1794: 1789: 1785: 1781: 1777: 1773: 1769: 1762: 1759: 1754: 1748: 1746: 1742: 1737: 1733: 1727: 1724: 1719: 1715: 1709: 1706: 1702: 1698: 1693: 1691: 1689: 1685: 1681: 1677: 1672: 1670: 1668: 1664: 1658: 1654: 1651: 1650: 1646: 1636: 1629: 1626: 1618: 1614: 1609: 1601: 1597: 1563: 1419: 1405: 1404: 1396: 1394: 1392: 1388: 1384: 1379: 1377: 1369: 1367: 1363: 1361: 1357: 1353: 1349: 1345: 1332: 1329: 1327: 1323: 1320: 1317: 1315: 1311: 1308: 1305: 1303: 1299: 1294: 1290: 1287: 1283: 1280: 1278: 1277:Gene Ontology 1274: 1271: 1268: 1265: 1262: 1259: 1255: 1252: 1249: 1247: 1243: 1240: 1237: 1235: 1231: 1228: 1225: 1223: 1219: 1216: 1215:NiceZyme view 1213: 1211: 1207: 1204: 1201: 1199: 1195: 1192: 1189: 1187: 1183: 1178: 1175: 1172: 1170: 1166: 1163: 1160: 1158: 1154: 1149: 1144: 1138: 1136: 1134: 1131: 1127: 1123: 1119: 1107: 1102: 1098: 1094: 1091: 1087: 1080: 1078: 1075: 1071: 1067: 1063: 1060: 1056: 1052: 1045: 1043: 1039: 1033: 1029: 1025: 1021: 1017: 1013: 1009: 1006: 1000: 998: 994: 988: 984: 981: 977: 970: 968: 964: 958: 954: 950: 946: 942: 938: 934: 931: 925: 923: 919: 913: 909: 906: 904:RefSeq (mRNA) 902: 895: 894: 889: 885: 882: 876: 875: 870: 866: 863: 861: 857: 850: 849: 844: 840: 837: 831: 830: 825: 821: 818: 816: 812: 805: 804: 799: 795: 792: 786: 785: 780: 776: 773: 771: 767: 764: 761: 759: 756: 752: 749: 745: 741: 734: 730: 725: 719: 716: 714: 711: 709: 706: 704: 701: 699: 696: 694: 691: 689: 686: 684: 681: 679: 676: 674: 671: 669: 666: 664: 661: 659: 656: 654: 651: 649: 646: 644: 641: 640: 638: 635: 634: 628: 625: 623: 620: 618: 615: 613: 610: 608: 605: 603: 600: 598: 595: 593: 590: 589: 587: 584: 583: 577: 574: 572: 569: 567: 564: 562: 559: 557: 554: 553: 551: 548: 547: 544: 543:Gene ontology 540: 536: 524: 519: 515: 508: 503: 500: 498: 494: 486: 481: 470: 466: 462: 459:Gonadal ridge 458: 454: 450: 446: 442: 438: 435:adrenal gland 434: 433: 430: 426: 421: 418: 408: 404: 400: 396: 392: 388: 384: 380: 376: 372: 371: 368: 364: 359: 356: 355: 352: 350: 346: 344: 343: 339: 338: 335: 333: 329: 325: 321: 317: 309: 304: 300: 296: 291: 281: 277: 270: 263: 257: 250: 242: 238: 234: 229: 225: 220: 216: 208: 203: 199: 195: 190: 180: 176: 169: 162: 156: 149: 145: 139: 135: 131: 126: 122: 117: 113: 109: 103: 99: 95: 91: 87: 83: 79: 75: 71: 67: 63: 59: 51: 46: 39: 34: 29: 25: 20: 3901: 3900: 3862:Translocases 3859: 3846: 3833: 3820: 3807: 3797:Transferases 3794: 3781: 3638:Binding site 3545:5α-reductase 3366: 3246: 3232: 3170:5α-Reductase 3126:sex hormones 3086: 3049: 3036: 3010:pregnenolone 2942: 2674: 2668: 2623:(1): 75–80. 2620: 2616: 2591: 2587: 2562:(2): 162–3. 2559: 2555: 2519:(1): 45–50. 2516: 2512: 2486:(2): 174–7. 2483: 2479: 2453: 2449: 2421: 2417: 2380: 2376: 2340: 2336: 2297: 2293: 2262: 2258: 2219: 2215: 2166: 2162: 2126:(1): 55–62. 2123: 2119: 2070: 2066: 2027: 2023: 2005:(6): 311–7. 2002: 1998: 1973: 1969: 1932: 1928: 1918: 1883: 1879: 1869: 1837:(1): 55–62. 1834: 1830: 1820: 1775: 1771: 1761: 1735: 1726: 1717: 1708: 1628: 1402: 1401: 1380: 1373: 1364: 1341: 1203:BRENDA entry 1129: 1121: 1117: 1116: 1042:NP_001369432 1038:NP_001369431 1035: 1028:NP_001369430 1024:NP_001369429 1020:NP_001369428 1016:NP_001369427 993:NP_001157289 990: 967:NM_001382503 963:NM_001382502 960: 953:NM_001382501 949:NM_001382500 945:NM_001382499 941:NM_001382498 918:NM_001163817 915: 891: 872: 846: 827: 801: 782: 762: 757: 566:NADP binding 447:motor neuron 443:cumulus cell 347: 340: 306:143,402,147 293:143,376,882 53:External IDs 3633:Active site 3149:17,20-Lyase 3038:aldosterone 2953:Desmosterol 2886:cholesterol 2797:Thiophorase 2779:Ketogenesis 2729:cholesterol 1352:cholesterol 1191:IntEnz view 1151:Identifiers 397:skin of leg 285:7|7 F5 205:71,452,868 192:71,428,193 31:Identifiers 3918:Categories 3836:Isomerases 3810:Hydrolases 3677:Regulation 2977:Bile acids 2896:lanosterol 2731:synthesis 2717:Metabolism 1703:, May 2017 1682:, May 2017 1659:References 1381:All house 1260:structures 1227:KEGG entry 1174:9080-21-1 463:left colon 401:C1 segment 351:(ortholog) 74:HomoloGene 3715:EC number 3234:sulfatase 3201:Aromatase 3193:estrogens 3136:androgens 3055:cortisone 1391:vitamin D 1370:Pathology 1180:Databases 1012:NP_031882 997:NP_001351 937:NM_007856 922:NM_001360 748:Orthologs 102:EC number 82:GeneCards 3929:EC 1.3.1 3739:Kinetics 3663:Cofactor 3626:Activity 3398:acceptor 3351:acceptor 3051:cortisol 2859:Geranyl- 2637:11562938 2608:11427181 2578:11298379 2535:11175299 2500:11078571 2470:10995508 2440:10814720 2405:25094766 2397:10719329 2367:10677299 2324:20399957 2316:10602371 2259:Genomics 2011:11767235 1990:11111101 1951:31803981 1910:16207203 1699:– 1678:– 1647:See also 1331:proteins 1319:articles 1307:articles 1264:RCSB PDB 1162:1.3.1.21 1139:Function 1090:Wikidata 727:Sources: 602:membrane 471:ectoderm 108:1.3.1.21 3895:Biology 3849:Ligases 3619:Enzymes 3469:Quinone 3259:SULT2A1 3254:SULT1A1 2755:HMG-CoA 2733:enzymes 2725:ketones 2543:6469533 2358:1288092 2281:9878250 2246:9683613 2237:1377322 2203:9653161 2171:Bibcode 2150:9634533 2141:1377256 2107:9465114 2075:Bibcode 2054:7560069 1901:1350989 1861:9634533 1852:1377256 1812:9465114 1780:Bibcode 1701:Ensembl 1680:Ensembl 1411:[[File: 1344:protein 1286:QuickGO 1251:profile 1234:MetaCyc 1169:CAS no. 1126:protein 1124:, is a 860:UniProt 815:Ensembl 754:Species 733:QuickGO 627:cytosol 467:condyle 326:pattern 184:11q13.4 70:1298378 38:Aliases 3881:Portal 3823:Lyases 3560:SRD5A3 3555:SRD5A2 3550:SRD5A1 3533:ACADSB 3509:1.3.99 3396:Oxygen 2666:Human 2663:(MeSH) 2635:  2606:  2576:  2541:  2533:  2498:  2468:  2438:  2403:  2395:  2365:  2355:  2322:  2314:  2279:  2244:  2234:  2201:  2191:  2148:  2138:  2105:  2095:  2052:  2045:185814 2042:  2009:  1988:  1949:  1908:  1898:  1859:  1849:  1810:  1800:  1358:using 1348:enzyme 1314:PubMed 1296:Search 1282:AmiGO 1270:PDBsum 1210:ExPASy 1198:BRENDA 1186:IntEnz 1157:EC no. 1076:search 1074:PubMed 893:O88455 874:Q9UBM7 770:Entrez 497:BioGPS 381:oocyte 62:602858 3775:Types 3538:ACADS 3465:1.3.5 3392:1.3.3 3341:1.3.1 3087:both: 2827:DMAPP 2675:DHCR7 2669:DHCR7 2539:S2CID 2401:S2CID 2320:S2CID 2194:20950 2098:19210 1803:19210 1360:NADPH 1354:from 1246:PRIAM 1130:DHCR7 1122:DHCR7 803:13360 763:Mouse 758:Human 729:Amigo 349:Mouse 342:Human 289:Start 224:Mouse 188:Start 121:Human 86:DHCR7 45:DHCR7 22:DHCR7 3867:list 3860:EC7 3854:list 3847:EC6 3841:list 3834:EC5 3828:list 3821:EC4 3815:list 3808:EC3 3802:list 3795:EC2 3789:list 3782:EC1 3497:SDHD 3492:SDHC 3487:SDHB 3482:SDHA 3349:NADP 3334:1.3) 3206:17β- 3162:17β- 3065:11β- 2955:path 2926:path 2633:PMID 2604:PMID 2574:PMID 2531:PMID 2496:PMID 2466:PMID 2436:PMID 2393:PMID 2363:PMID 2312:PMID 2277:PMID 2242:PMID 2199:PMID 2146:PMID 2103:PMID 2050:PMID 2007:PMID 1986:PMID 1974:1529 1947:PMID 1906:PMID 1857:PMID 1808:PMID 1617:edit 1613:view 1600:edit 1596:view 1387:dogs 1385:and 1383:cats 1342:The 1326:NCBI 1267:PDBe 1222:KEGG 1133:gene 784:1717 332:Bgee 280:Band 241:Chr. 179:Band 138:Chr. 78:1042 58:OMIM 3345:NAD 3208:HSD 3191:To 3164:HSD 3156:HSD 3154:3β- 3134:To 3124:To 3092:HSD 3090:3β- 3067:HSD 3027:To 3008:To 2975:To 2894:To 2884:To 2825:To 2806:To 2753:To 2625:doi 2621:103 2596:doi 2564:doi 2560:100 2521:doi 2488:doi 2458:doi 2426:doi 2385:doi 2353:PMC 2345:doi 2302:doi 2267:doi 2232:PMC 2224:doi 2189:PMC 2179:doi 2136:PMC 2128:doi 2093:PMC 2083:doi 2040:PMC 2032:doi 1978:doi 1937:doi 1933:104 1896:PMC 1888:doi 1847:PMC 1839:doi 1798:PMC 1788:doi 1602:)]] 1302:PMC 1258:PDB 439:lip 302:End 201:End 90:OMA 66:MGI 3920:: 3467:: 3394:: 3343:: 3332:EC 3326:: 3231:: 2723:– 2719:: 2631:. 2619:. 2602:. 2592:65 2590:. 2572:. 2558:. 2554:. 2537:. 2529:. 2515:. 2511:. 2494:. 2484:95 2482:. 2464:. 2454:94 2452:. 2434:. 2420:. 2416:. 2399:. 2391:. 2381:20 2379:. 2361:. 2351:. 2341:66 2339:. 2335:. 2318:. 2310:. 2296:. 2292:. 2275:. 2263:54 2261:. 2257:. 2240:. 2230:. 2220:63 2218:. 2214:. 2197:. 2187:. 2177:. 2167:95 2165:. 2161:. 2144:. 2134:. 2124:63 2122:. 2118:. 2101:. 2091:. 2081:. 2071:95 2069:. 2065:. 2048:. 2038:. 2028:96 2026:. 2022:. 2003:24 2001:. 1984:. 1972:. 1945:. 1931:. 1927:. 1904:. 1894:. 1884:68 1882:. 1878:. 1855:. 1845:. 1835:63 1833:. 1829:. 1806:. 1796:. 1786:. 1776:95 1774:. 1770:. 1744:^ 1734:. 1716:. 1687:^ 1666:^ 1619:) 1615:/ 1598:/ 1378:. 1362:. 1284:/ 1135:. 731:/ 308:bp 295:bp 207:bp 194:bp 88:; 84:: 80:; 76:: 72:; 68:: 64:; 60:: 3910:. 3883:: 3869:) 3865:( 3856:) 3852:( 3843:) 3839:( 3830:) 3826:( 3817:) 3813:( 3804:) 3800:( 3791:) 3787:( 3611:e 3604:t 3597:v 3360:/ 3347:/ 3330:( 3316:e 3309:t 3302:v 3180:2 3175:1 3103:2 3098:1 3078:2 3073:1 3057:: 3053:/ 3040:: 2735:/ 2727:/ 2709:e 2702:t 2695:v 2682:. 2639:. 2627:: 2610:. 2598:: 2580:. 2566:: 2545:. 2523:: 2517:9 2502:. 2490:: 2472:. 2460:: 2442:. 2428:: 2422:9 2407:. 2387:: 2369:. 2347:: 2326:. 2304:: 2298:7 2283:. 2269:: 2248:. 2226:: 2205:. 2181:: 2173:: 2152:. 2130:: 2109:. 2085:: 2077:: 2056:. 2034:: 2013:. 1992:. 1980:: 1953:. 1939:: 1912:. 1890:: 1863:. 1841:: 1814:. 1790:: 1782:: 1755:. 1738:. 1720:. 1637:. 1555:] 1550:] 1545:] 1540:] 1535:] 1530:] 1525:] 1520:] 1515:] 1510:] 1505:] 1500:] 1495:] 1490:] 1485:] 1480:] 1475:] 1470:] 1465:] 1460:] 1455:] 1450:] 226:) 123:) 92::

Index

Aliases
DHCR7
OMIM
602858
MGI
1298378
HomoloGene
1042
GeneCards
DHCR7
OMA
DHCR7 - orthologs
EC number
1.3.1.21
Human
Chromosome 11 (human)
Chr.
Chromosome 11 (human)
Chromosome 11 (human)
Genomic location for DHCR7
Genomic location for DHCR7
Band
bp
bp
Mouse
Chromosome 7 (mouse)
Chr.
Chromosome 7 (mouse)
Genomic location for DHCR7
Genomic location for DHCR7

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