| HMDBP00040 | Hydroxymethylglutaryl-CoA synthase, mitochondrial | P54868 | HMGCS2 | 1p13-p12 | Enzyme | - Honda M, Tint GS, Honda A, Nguyen LB, Chen TS, Shefer S: 7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts. J Lipid Res. 1998 Mar;39(3):647-57. [PubMed:9548596 ]
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| HMDBP00135 | Lathosterol oxidase | O75845 | SC5DL | 11q23.3 | Unknown | - Sugawara T, Fujimoto Y, Ishibashi T: Molecular cloning and structural analysis of human sterol C5 desaturase. Biochim Biophys Acta. 2001 Oct 31;1533(3):277-84. [PubMed:11731337 ]
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| HMDBP00440 | Non-specific lipid-transfer protein | P22307 | SCP2 | 1p32 | Enzyme | - Morin RJ, Brun MJ, Srikantaiah MV: Effect of age and cholestyramine feeding on rat liver 3-hydroxy-3-methyl glutaryl CoA reductase, sterol carrier protein 1 and sterol carrier protein 2 activities. Lipids. 1982 Jul;17(7):507-10. [PubMed:7121212 ]
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| HMDBP00548 | 7-dehydrocholesterol reductase | Q9UBM7 | DHCR7 | 11q13.4 | Enzyme | - Porter FD: Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2008 May;16(5):535-41. doi: 10.1038/ejhg.2008.10. Epub 2008 Feb 20. [PubMed:18285838 ]
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| HMDBP00724 | Cholesterol side-chain cleavage enzyme, mitochondrial | P05108 | CYP11A1 | 15q23-q24 | Unknown | - Guryev O, Carvalho RA, Usanov S, Gilep A, Estabrook RW: A pathway for the metabolism of vitamin D3: unique hydroxylated metabolites formed during catalysis with cytochrome P450scc (CYP11A1). Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):14754-9. Epub 2003 Dec 1. [PubMed:14657394 ]
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| HMDBP01935 | Delta(24)-sterol reductase | Q15392 | DHCR24 | 1p32.3 | Unknown | Not Available |
