CYP7B1
CYP7B1 is a gene that encodes the enzyme cytochrome P450 7B1, which is involved in the metabolism of cholesterol and neurosteroids. This enzyme is part of the cytochrome P450 superfamily of enzymes, which are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids.
Function[edit | edit source]
CYP7B1 is primarily expressed in the liver, brain, and other tissues, where it plays a crucial role in the biosynthesis of bile acids from cholesterol. It specifically catalyzes the hydroxylation of 25-hydroxycholesterol and other oxysterols, which are important intermediates in the synthesis of bile acids. This process is essential for maintaining cholesterol homeostasis and for the elimination of excess cholesterol from the body.
Clinical Significance[edit | edit source]
Mutations in the CYP7B1 gene have been associated with a rare genetic disorder known as Spastic paraplegia 5A (SPG5A), which is a form of hereditary spastic paraplegia. This condition is characterized by progressive weakness and spasticity of the lower limbs. The mutations lead to a deficiency in the enzyme's activity, resulting in the accumulation of neurotoxic oxysterols, which may contribute to the neurological symptoms observed in affected individuals.
Pathways[edit | edit source]
CYP7B1 is involved in several metabolic pathways, including the bile acid biosynthesis pathway and the steroid hormone biosynthesis pathway. It also plays a role in the metabolism of androgens and estrogens, influencing the levels of these hormones in the body.
Research[edit | edit source]
Research on CYP7B1 continues to explore its role in cholesterol metabolism and its potential implications in various diseases, including neurodegenerative disorders and cardiovascular diseases. Understanding the function and regulation of CYP7B1 may provide insights into new therapeutic targets for these conditions.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
- [CYP7B1 gene - Genetics Home Reference](https://ghr.nlm.nih.gov/gene/CYP7B1)
- [CYP7B1 - GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP7B1)
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Contributors: Prab R. Tumpati, MD
