7-Dehydrocholesterol reductase

7-dehydrocholesterol reductase
Identifiers
Symbols	DHCR7; SLOS
External IDs	OMIM: 602858 MGI: 1298378 HomoloGene: 1042 GeneCards: DHCR7 Gene
EC number	1.3.1.21
Gene Ontology Molecular function • protein binding • oxidoreductase activity • 7-dehydrocholesterol reductase activity • 7-dehydrocholesterol reductase activity Cellular component • nuclear outer membrane • endoplasmic reticulum • endoplasmic reticulum membrane • microsome • membrane • integral to membrane Biological process • blood vessel development • cholesterol biosynthetic process • cholesterol biosynthetic process • post-embryonic development • cell differentiation • lung development • multicellular organism growth • regulation of cell proliferation • regulation of cholesterol biosynthetic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1717	13360
Ensembl	ENSG00000172893	ENSMUSG00000058454
UniProt	Q9UBM7	Q3UIQ5
RefSeq (mRNA)	NM_001163817.1	NM_007856.2
RefSeq (protein)	NP_001157289.1	NP_031882.1
Location (UCSC)	Chr 11: 71.14 – 71.16 Mb	Chr 7: 151.01 – 151.03 Mb
PubMed search	[1]	[2]

7-dehydrocholesterol reductase, also known as DHCR7, is a protein in humans which is encoded by the DHCR7 gene.^[1][2][3]

Function

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 penultimate 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]

References

1. ^ ^{a b} "Entrez Gene: DHCR7 7-dehydrocholesterol reductase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1717. 
2. ^ 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. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=9465114. 
3. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377256. 
4. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1350989. 

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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=185814. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=19210. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377256. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=20950. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377322. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288092. 
• 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
• MeSH 7-dehydrocholesterol+reductase

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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