Title : Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Pub. Date : 2000 Feb

PMID : 10677299






3 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Mutations in the gene for Delta7-sterol reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis in the endoplasmic reticulum (ER), cause SLOS. Cholesterol 7-dehydrocholesterol reductase Homo sapiens
2 Homozygosity for 0 mutations in DHCR7 appears compatible with life, suggesting that cholesterol may be synthesized in the absence of this enzyme or that exogenous sources of cholesterol can be used. Cholesterol 7-dehydrocholesterol reductase Homo sapiens
3 Homozygosity for 0 mutations in DHCR7 appears compatible with life, suggesting that cholesterol may be synthesized in the absence of this enzyme or that exogenous sources of cholesterol can be used. Cholesterol 7-dehydrocholesterol reductase Homo sapiens