| First Author | Correa-Cerro LS | Year | 2005 |
| Journal | Mol Genet Metab | Volume | 84 |
| Issue | 2 | Pages | 112-26 |
| PubMed ID | 15670717 | Mgi Jnum | J:95657 |
| Mgi Id | MGI:3526753 | Doi | 10.1016/j.ymgme.2004.09.017 |
| Citation | Correa-Cerro LS, et al. (2005) 3beta-Hydroxysterol Delta(7)-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab 84(2):112-26 |
| abstractText | In the final step of cholesterol synthesis, 7-dehydrocholesterol reductase (DHCR7) reduces the double bond at C7-8 of 7-dehydrocholesterol to yield cholesterol. Mutations of DHCR7 cause Smith-Lemli-Opitz syndrome (SLOS). Over 100 different mutations of DHCR7 have been identified in SLOS patients. SLOS is a classical multiple malformation, mental retardation syndrome, and was the first human malformation syndrome shown to result from an inborn error of cholesterol synthesis. This paper reviews the biochemical, molecular, and mutational aspects of DHCR7. |
