CYP7B1

CYP7B1 is a gene that encodes the enzyme oxysterol 7-alpha-hydroxylase. This enzyme is involved in the metabolism of steroids, specifically the conversion of cholesterol into bile acids. Mutations in the CYP7B1 gene can lead to diseases such as spastic paraplegia and congenital bile acid synthesis defect type 3.

Function

The CYP7B1 gene is part of the cytochrome P450 family of enzymes. These enzymes are involved in the synthesis of cholesterol, steroids, and other lipids. The CYP7B1 enzyme specifically catalyzes the 7-alpha-hydroxylation of certain sterols, including dehydroepiandrosterone (DHEA) and pregnenolone, which are precursors to all human steroids.

Clinical significance

Mutations in the CYP7B1 gene can lead to a number of diseases. One of these is spastic paraplegia 5A (SPG5A), a form of hereditary spastic paraplegia. This condition is characterized by progressive muscle stiffness and weakness in the lower limbs.

Another disease caused by CYP7B1 mutations is congenital bile acid synthesis defect type 3 (CBAS3). This is a potentially life-threatening condition that disrupts the normal process of bile acid production, leading to liver disease and malabsorption of fats and fat-soluble vitamins.

Research

Research into the CYP7B1 gene and its associated diseases is ongoing. Understanding the function of this gene and its enzyme product may lead to new treatments for conditions like SPG5A and CBAS3.

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The CYP7B1 gene is located on the short (p) arm of chromosome 8 at position 21.3.

See also

• Cytochrome P450
• Hereditary spastic paraplegia
• Congenital bile acid synthesis defect