7-Dehydrocholesterol reductase
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| 7-dehydrocholesterol reductase | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | DHCR7; SLOS | ||||||||||||
| External IDs | OMIM: 602858 MGI: 1298378 HomoloGene: 1042 GeneCards: DHCR7 Gene | ||||||||||||
| EC number | 1.3.1.21 | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 1717 | 13360 | |||||||||||
| Ensembl | ENSG00000172893 | ENSMUSG00000058454 | |||||||||||
| UniProt | Q9UBM7 | O88455 | |||||||||||
| RefSeq (mRNA) | NM_001163817 | NM_007856 | |||||||||||
| RefSeq (protein) | NP_001157289 | NP_031882 | |||||||||||
| Location (UCSC) | Chr 11: 71.14 – 71.16 Mb | Chr 7: 143.82 – 143.85 Mb | |||||||||||
| PubMed search | |||||||||||||
7-dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.[1][2][3]
Function
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The protein encoded by this gene is an enzyme catalyzing the production of cholesterol from 7-Dehydrocholesterol using NADPH.
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]
Pathology
A deficiency is associated with Smith-Lemli-Opitz syndrome.[4]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
Vitamin D Synthesis Pathway edit
- ↑ The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531".
References
- ↑ 1.0 1.1 "Entrez Gene: DHCR7 7-dehydrocholesterol reductase".
- ↑ Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (February 1998). "Molecular cloning and expression of the human delta7-sterol reductase". Proc. Natl. Acad. Sci. U.S.A. 95 (4): 1899–902. doi:10.1073/pnas.95.4.1899. PMC 19210. PMID 9465114.
- ↑ Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (July 1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". Am. J. Hum. Genet. 63 (1): 55–62. doi:10.1086/301936. PMC 1377256. PMID 9634533.
- ↑ Yu H, Patel SB (November 2005). "Recent insights into the Smith-Lemli-Opitz syndrome". Clin. Genet. 68 (5): 383–91. doi:10.1111/j.1399-0004.2005.00515.x. PMC 1350989. PMID 16207203.
Further reading
- Waterham HR, Wanders RJ (2001). "Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.". Biochim. Biophys. Acta 1529 (1–3): 340–56. PMID 11111101.
- Nowaczyk MJ, Nakamura LM, Waye JS (2002). "DHCR7 and Smith-Lemli-Opitz syndrome". Clinical and investigative medicine. Médecine clinique et experimentale 24 (6): 311–7. PMID 11767235.
- Shefer S, Salen G, Batta AK, et al. (1995). "Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes". J. Clin. Invest. 96 (4): 1779–85. doi:10.1172/JCI118223. PMC 185814. PMID 7560069.
- Moebius FF, Fitzky BU, Lee JN, et al. (1998). "Molecular cloning and expression of the human delta7-sterol reductase". Proc. Natl. Acad. Sci. U.S.A. 95 (4): 1899–902. doi:10.1073/pnas.95.4.1899. PMC 19210. PMID 9465114.
- Wassif CA, Maslen C, Kachilele-Linjewile S, et al. (1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". Am. J. Hum. Genet. 63 (1): 55–62. doi:10.1086/301936. PMC 1377256. PMID 9634533.
- Fitzky BU, Witsch-Baumgartner M, Erdel M, et al. (1998). "Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome". Proc. Natl. Acad. Sci. U.S.A. 95 (14): 8181–6. doi:10.1073/pnas.95.14.8181. PMC 20950. PMID 9653161.
- Waterham HR, Wijburg FA, Hennekam RC, et al. (1998). "Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene". Am. J. Hum. Genet. 63 (2): 329–38. doi:10.1086/301982. PMC 1377322. PMID 9683613.
- Holmer L, Pezhman A, Worman HJ (1999). "The human lamin B receptor/sterol reductase multigene family". Genomics 54 (3): 469–76. doi:10.1006/geno.1998.5615. PMID 9878250.
- De Brasi D, Esposito T, Rossi M, et al. (2000). "Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations". Eur. J. Hum. Genet. 7 (8): 937–40. doi:10.1038/sj.ejhg.5200390. PMID 10602371.
- Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, et al. (2000). "Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome". Am. J. Hum. Genet. 66 (2): 402–12. doi:10.1086/302760. PMC 1288092. PMID 10677299.
- Linck LM, Hayflick SJ, Lin DS, et al. (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". Prenat. Diagn. 20 (3): 238–40. doi:10.1002/(SICI)1097-0223(200003)20:3<238::AID-PD792>3.0.CO;2-W. PMID 10719329.
- Yu H, Lee MH, Starck L, et al. (2000). "Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome". Hum. Mol. Genet. 9 (9): 1385–91. doi:10.1093/hmg/9.9.1385. PMID 10814720.
- Krakowiak PA, Nwokoro NA, Wassif CA, et al. (2000). "Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping". Am. J. Med. Genet. 94 (3): 214–27. doi:10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R. PMID 10995508.
- Löffler J, Trojovsky A, Casati B, et al. (2001). "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". Am. J. Med. Genet. 95 (2): 174–7. doi:10.1002/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9. PMID 11078571.
- Witsch-Baumgartner M, Ciara E, Löffler J, et al. (2001). "Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations". Eur. J. Hum. Genet. 9 (1): 45–50. doi:10.1038/sj.ejhg.5200579. PMID 11175299.
- Nowaczyk MJ, Heshka T, Eng B, et al. (2001). "DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome". Am. J. Med. Genet. 100 (2): 162–3. doi:10.1002/ajmg.1227. PMID 11298379.
- Jira PE, Wanders RJ, Smeitink JA, et al. (2001). "Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome". Ann. Hum. Genet. 65 (Pt 3): 229–36. doi:10.1017/S0003480001008600. PMID 11427181.
- Nowaczyk MJ, Farrell SA, Sirkin WL, et al. (2001). "Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype". Am. J. Med. Genet. 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 US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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