Title : Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Pub. Date : 1998 Aug

PMID : 9683613






1 Functional Relationships(s)
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1 Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the final step in the cholesterol-biosynthesis pathway-that is, the reduction of the Delta7 double bond of 7-dehydrocholesterol to produce cholesterol. Cholesterol 7-dehydrocholesterol reductase Homo sapiens