7-Dehydrocholesterol reductase
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| 7-dehydrocholesterol reductase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC no. | 1.3.1.21 | ||||||||
| CAS no. | Template:CAS | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
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7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.[1][2][3]
Function
The protein encoded by this gene is an enzyme catalyzing the reversible production of cholesterol from 7-dehydrocholesterol using nicotinamide adenine dinucleotide phosphate (NADPH) as its cofactor.[4]
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 drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development.[1]
It displays a modest level of enzyme promiscuity, being able to catalyze analogous reactions with (substrate in forward direction) brassicasterol,[5] 20S(OH)7DHC, 27(OH)DHC and 7-dehydrodesmosterol.[6]
Pathology
A deficiency is associated with Smith–Lemli–Opitz syndrome.[7]
All house cats and dogs have higher-than-usual activity of this enzyme, causing an inability to synthesize vitamin D due to the lack of 7-dehydrocholesterol.[8]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
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- ^ The interactive pathway map can be edited at WikiPathways: Page Module:Citation/CS1/styles.css has no content."VitaminDSynthesis_WP1531".
See also
References
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- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: DHCR7 7-dehydrocholesterol reductase".
- ^ Page Module:Citation/CS1/styles.css has no content.Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998). "Molecular cloning and expression of the human delta7-sterol reductase". Proceedings of the National Academy of Sciences of the United States of America. 95 (4): 1899–1902. Bibcode:1998PNAS...95.1899M. doi:10.1073/pnas.95.4.1899. PMC 19210. PMID 9465114.
- ^ Page Module:Citation/CS1/styles.css has no content.Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, et al. (Jul 1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". American Journal of Human Genetics. 63 (1): 55–62. doi:10.1086/301936. PMC 1377256. PMID 9634533.
- ^ Enzyme 1.3.1.21 at KEGG Pathway Database.
- ^ Page Module:Citation/CS1/styles.css has no content.Kuwabara N, Sato S, Nakagawa S (December 2023). "Effects of Long-Term High-Ergosterol Intake on the Cholesterol and Vitamin D Biosynthetic Pathways of Rats Fed a High-Fat and High-Sucrose Diet". Biological & Pharmaceutical Bulletin. 46 (12) b23-00348: 1683–1691. doi:10.1248/bpb.b23-00348. PMID 37779053.
- ^ Page Module:Citation/CS1/styles.css has no content.Tuckey RC, Tang EK, Chen YA, Slominski AT (September 2021). "Selective ability of rat 7-Dehydrocholesterol reductase (DHCR7) to act on some 7-Dehydrocholesterol metabolites but not on lumisterol metabolites". The Journal of Steroid Biochemistry and Molecular Biology. 212 105929. doi:10.1016/j.jsbmb.2021.105929. PMC 8403650. PMID 34098080.
- ^ Page Module:Citation/CS1/styles.css has no content.Yu H, Patel SB (Nov 2005). "Recent insights into the Smith-Lemli-Opitz syndrome". Clinical Genetics. 68 (5): 383–391. doi:10.1111/j.1399-0004.2005.00515.x. PMC 1350989. PMID 16207203.
- ^ Page Module:Citation/CS1/styles.css has no content.Zafalon RV, Risolia LW, Pedrinelli V, Vendramini TH, Rodrigues RB, Amaral AR, et al. (January 2020). "Vitamin D metabolism in dogs and cats and its relation to diseases not associated with bone metabolism". Journal of Animal Physiology and Animal Nutrition. 104 (1): 322–342. doi:10.1111/jpn.13259. PMID 31803981.
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Waterham HR, Wanders RJ (Dec 2000). "Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1529 (1–3): 340–356. doi:10.1016/s1388-1981(00)00159-1. PMID 11111101.
- Page Module:Citation/CS1/styles.css has no content.Nowaczyk MJ, Nakamura LM, Waye JS (Dec 2001). "DHCR7 and Smith-Lemli-Opitz syndrome". Clinical and Investigative Medicine. Medecine Clinique et Experimentale. 24 (6): 311–317. PMID 11767235.
- Page Module:Citation/CS1/styles.css has no content.Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, et al. (Oct 1995). "Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes". The Journal of Clinical Investigation. 96 (4): 1779–1785. doi:10.1172/JCI118223. PMC 185814. PMID 7560069.
- Page Module:Citation/CS1/styles.css has no content.Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998). "Molecular cloning and expression of the human delta7-sterol reductase". Proceedings of the National Academy of Sciences of the United States of America. 95 (4): 1899–1902. Bibcode:1998PNAS...95.1899M. doi:10.1073/pnas.95.4.1899. PMC 19210. PMID 9465114.
- Page Module:Citation/CS1/styles.css has no content.Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, et al. (Jul 1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". American Journal of Human Genetics. 63 (1): 55–62. doi:10.1086/301936. PMC 1377256. PMID 9634533.
- Page Module:Citation/CS1/styles.css has no content.Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, et al. (Jul 1998). "Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome". Proceedings of the National Academy of Sciences of the United States of America. 95 (14): 8181–8186. Bibcode:1998PNAS...95.8181F. doi:10.1073/pnas.95.14.8181. PMC 20950. PMID 9653161.
- Page Module:Citation/CS1/styles.css has no content.Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, et al. (Aug 1998). "Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene". American Journal of Human Genetics. 63 (2): 329–338. doi:10.1086/301982. PMC 1377322. PMID 9683613.
- Page Module:Citation/CS1/styles.css has no content.Holmer L, Pezhman A, Worman HJ (Dec 1998). "The human lamin B receptor/sterol reductase multigene family". Genomics. 54 (3): 469–476. doi:10.1006/geno.1998.5615. PMID 9878250.
- Page Module:Citation/CS1/styles.css has no content.De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, et al. (Dec 1999). "Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations". European Journal of Human Genetics. 7 (8): 937–940. doi:10.1038/sj.ejhg.5200390. PMID 10602371. S2CID 20399957.
- Page Module:Citation/CS1/styles.css has no content.Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, et al. (Feb 2000). "Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome". American Journal of Human Genetics. 66 (2): 402–412. doi:10.1086/302760. PMC 1288092. PMID 10677299.
- Page Module:Citation/CS1/styles.css has no content.Linck LM, Hayflick SJ, Lin DS, Battaile KP, Ginat S, Burlingame T, et al. (Mar 2000). "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". Prenatal Diagnosis. 20 (3): 238–240. doi:10.1002/(SICI)1097-0223(200003)20:3<238::AID-PD792>3.0.CO;2-W. PMID 10719329. S2CID 25094766.
- Page Module:Citation/CS1/styles.css has no content.Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, et al. (May 2000). "Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome". Human Molecular Genetics. 9 (9): 1385–1391. doi:10.1093/hmg/9.9.1385. PMID 10814720.
- Page Module:Citation/CS1/styles.css has no content.Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, et al. (Sep 2000). "Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping". American Journal of Medical Genetics. 94 (3): 214–227. doi:10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R. PMID 10995508.
- Page Module:Citation/CS1/styles.css has no content.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". American Journal of Medical Genetics. 95 (2): 174–177. doi:10.1002/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9. PMID 11078571.
- Page Module:Citation/CS1/styles.css has no content.Witsch-Baumgartner M, Ciara E, Löffler J, Menzel HJ, Seedorf U, Burn J, et al. (Jan 2001). "Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations". European Journal of Human Genetics. 9 (1): 45–50. doi:10.1038/sj.ejhg.5200579. PMID 11175299. S2CID 6469533.
- Page Module:Citation/CS1/styles.css has no content.Nowaczyk MJ, Heshka T, Eng B, Feigenbaum AJ, Waye JS (Apr 2001). "DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome". American Journal of Medical Genetics. 100 (2): 162–163. doi:10.1002/ajmg.1227. PMID 11298379.
- Page Module:Citation/CS1/styles.css has no content.Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, et al. (May 2001). "Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome". Annals of Human Genetics. 65 (Pt 3): 229–236. doi:10.1017/S0003480001008600 (inactive 18 April 2026). PMID 11427181.
{{cite journal}}: CS1 maint: DOI inactive as of April 2026 (link) - Page Module:Citation/CS1/styles.css has no content.Nowaczyk MJ, Farrell SA, Sirkin WL, Velsher L, Krakowiak PA, Waye JS, et al. (Sep 2001). "Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G→C genotype". American Journal of Medical Genetics. 103 (1): 75–80. doi:10.1002/1096-8628(20010915)103:1<75::AID-AJMG1502>3.0.CO;2-R. PMID 11562938.
External links
- GeneReviews/NIH/NCBI/UW entry on Smith-Lemli-Opitz Syndrome
- 7-dehydrocholesterol+reductase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Template:UCSC gene info
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
