7-Dehydrocholesterol reductase

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7-dehydrocholesterol reductase
Identifiers
Symbol(s) DHCR7; SLOS
External IDs OMIM: 602858 MGI: 1298378 HomoloGene: 1042
EC number 1.3.1.21
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1717 13360
Ensembl ENSG00000172893 ENSMUSG00000058454
Uniprot Q9UBM7 Q3UIQ5
Refseq NM_001360 (mRNA)
NP_001351 (protein)		 XM_001002212 (mRNA)
XP_001002212 (protein)
Location Chr 11: 70.82 - 70.84 Mb Chr 7: 143.63 - 143.66 Mb
Pubmed search [1] [2]

7-dehydrocholesterol reductase, also known as DHCR7, is a human gene.[1]

The protein encoded by this gene is an enzyme catalyzing the production of cholesterol from 7-Dehydrocholesterol using NADPH.

Contents

[edit] Pathology

A deficiency is associated with Smith-Lemli-Opitz syndrome.

[edit] References

  1. ^ Entrez Gene: DHCR7 7-dehydrocholesterol reductase.

[edit] 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 11562938. 

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Oxidoreductases: CH-CH oxidoreductases (EC 1.3)
1.3.1. NAD/NADP acceptor
1.3.3. Oxygen acceptor
1.3.5. Quinone
1.3.99. Other acceptors
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