Biology:7-Dehydrocholesterol reductase
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Short description: Mammalian protein found in Homo sapiens
 Generic protein structure example |
7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.[1][2][3]
Function
| 7-dehydrocholesterol reductase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC number | 1.3.1.21 | ||||||||
| CAS number | 9080-21-1 | ||||||||
| 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 | ||||||||
| |||||||||
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]
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.[5]
Interactive pathway map
See also
References
- ↑ 1.0 1.1 "Entrez Gene: DHCR7 7-dehydrocholesterol reductase". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1717.
- ↑ "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): 1899–902. Feb 1998. doi:10.1073/pnas.95.4.1899. PMID 9465114. Bibcode: 1998PNAS...95.1899M.
- ↑ "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. Jul 1998. doi:10.1086/301936. PMID 9634533.
- ↑ "Recent insights into the Smith-Lemli-Opitz syndrome". Clinical Genetics 68 (5): 383–91. Nov 2005. doi:10.1111/j.1399-0004.2005.00515.x. PMID 16207203.
- ↑ Zafalon, Rafael V. A.; Risolia, Larissa W.; Pedrinelli, Vivian; Vendramini, Thiago H. A.; Rodrigues, Roberta B. A.; Amaral, Andressa R.; Kogika, Marcia M.; Brunetto, Marcio A. (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
- "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): 340–56. Dec 2000. doi:10.1016/s1388-1981(00)00159-1. PMID 11111101.
- "DHCR7 and Smith-Lemli-Opitz syndrome". Clinical and Investigative Medicine 24 (6): 311–7. Dec 2001. PMID 11767235.
- "Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes". The Journal of Clinical Investigation 96 (4): 1779–85. Oct 1995. doi:10.1172/JCI118223. PMID 7560069.
- "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): 1899–902. Feb 1998. doi:10.1073/pnas.95.4.1899. PMID 9465114. Bibcode: 1998PNAS...95.1899M.
- "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. Jul 1998. doi:10.1086/301936. PMID 9634533.
- "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): 8181–6. Jul 1998. doi:10.1073/pnas.95.14.8181. PMID 9653161. Bibcode: 1998PNAS...95.8181F.
- "Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene". American Journal of Human Genetics 63 (2): 329–38. Aug 1998. doi:10.1086/301982. PMID 9683613.
- "The human lamin B receptor/sterol reductase multigene family". Genomics 54 (3): 469–76. Dec 1998. doi:10.1006/geno.1998.5615. PMID 9878250.
- "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): 937–40. Dec 1999. doi:10.1038/sj.ejhg.5200390. PMID 10602371.
- "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): 402–12. Feb 2000. doi:10.1086/302760. PMID 10677299.
- "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): 238–40. Mar 2000. doi:10.1002/(SICI)1097-0223(200003)20:3<238::AID-PD792>3.0.CO;2-W. PMID 10719329.
- "Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome". Human Molecular Genetics 9 (9): 1385–91. May 2000. doi:10.1093/hmg/9.9.1385. PMID 10814720.
- "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): 214–27. Sep 2000. doi:10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R. PMID 10995508.
- "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): 174–7. Nov 2000. doi:10.1002/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9. PMID 11078571.
- "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. Jan 2001. doi:10.1038/sj.ejhg.5200579. PMID 11175299.
- "DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome". American Journal of Medical Genetics 100 (2): 162–3. Apr 2001. doi:10.1002/ajmg.1227. PMID 11298379.
- "Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome". Annals of Human Genetics 65 (Pt 3): 229–36. May 2001. doi:10.1017/S0003480001008600. PMID 11427181.
- "Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype". American Journal of Medical Genetics 103 (1): 75–80. Sep 2001. 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)
- Human DHCR7 genome location and DHCR7 gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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