Cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase

Cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase is an enzyme that catalyzes the chemical reaction of converting cholest-5-ene-3beta,7alpha-diol into 7alpha-hydroxycholest-4-en-3-one. This enzyme belongs to the family of oxidoreductases, specifically those acting on the CH-OH group of donor with NAD+ or NADP+ as acceptor. The systematic name of this enzyme class is cholest-5-ene-3beta,7alpha-diol:NAD+ 3beta-oxidoreductase.

Function

Cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase is involved in the metabolism of steroids, specifically in the conversion of cholesterol to bile acids. This enzyme plays a crucial role in maintaining the balance of cholesterol in the body.

Structure

The enzyme is a protein that is encoded by the HSD3B7 gene. Mutations in this gene can lead to a rare disorder known as congenital bile acid synthesis defect type 2 (CBAS2), which is characterized by severe liver disease.

Clinical Significance

Deficiency of this enzyme can lead to an accumulation of toxic intermediates in the liver, resulting in liver damage and potentially leading to cirrhosis and liver failure. Early diagnosis and treatment can prevent these severe outcomes.

See Also

• HSD3B7
• Congenital bile acid synthesis defect type 2
• Oxidoreductase
• Steroid metabolism

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