Δ7-Dehydrocholesterol Reductase

Supporting information

Δ7-Dehydrocholesterol reductase (DHCR) is a membrane-bound enzyme that catalyzes the final step of cholesterol biosynthesis (the reduction of the C7-8 double bond in 7-dehydrocholesterol to form cholesterol), using NADPH as a cofactor. Cholesterol is a vital component in biological membranes and in myelin and is necessary for the synthesis of steroid hormones and bile acids.

DHCR is ubiquitously expressed and its highest concentrations are found in the liver and brain. Autosomal recessive mutations in the DHCR7 gene have been linked to Smith-Lemli-Opitz syndrome, an inherited disease causing multiple congenital abnormalities linked to defects in cholesterol biosynthesis. The human gene encoding this enzyme is localized to 11q12-13.

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Species Gene Symbol Gene Accession No. Protein Accession No.
Human DHCR7 NM_001360 Q9UBM7
Mouse Dhcr7 NM_007856 O88455
Rat Dhcr7 NM_022389 Q9Z2Z8

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