7-デヒドロコレステロールレダクターゼ
出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2010/03/18 23:50 UTC 版)
| 7-デヒドロコレステロールレダクターゼ | |||||||
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| 識別子 | |||||||
| EC番号 | 1.3.1.21 | ||||||
| CAS登録番号 | 9080-21-1 | ||||||
| IntEnz | IntEnz view | ||||||
| BRENDA | BRENDA entry | ||||||
| ExPASy | NiceZyme view | ||||||
| KEGG | KEGG entry | ||||||
| MetaCyc | metabolic pathway | ||||||
| PRIAM | profile | ||||||
| PDB | structures | ||||||
| 遺伝子オントロジー | AmiGO / EGO | ||||||
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7-デヒドロコレステロールレダクターゼ（7-dehydrocholesterol reductase、DHCR7）は、ヒトのDHCR7遺伝子にコードされているタンパク質である[1][2][3]。
目次 |
機能
このタンパク質はNADPHを用いて7-デヒドロコレステロール(7-DHC)からコレステロールを合成する酵素である。
DHCR7遺伝子には7-デヒドロコレステロール(EC 1.3.1.21)がコードされており、これは哺乳動物におけるステロール生合成の最後から2番目の酵素である。この酵素はステロールΔ8-Δ7イソメラーゼによって導入されたC(7-8)二重結合を除去する。
病理学
欠損症はスミス-レムリ-オピッツ症候群（コレステロール代謝異常による先天性奇形疾患）に関連する。
脚注
- ^ "Entrez Gene: DHCR7 7-dehydrocholesterol reductase". 18 November 2008 閲覧。
- ^ Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (1998 February). “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. PMID 9465114.
- ^ Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (1998 July). “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. PMID 9634533.
参考文献
- 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. 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. 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. 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. 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. 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. 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.
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