CYP7B1: One cytochrome P450, two human genetic diseases, and multiple physiological functions

Ashlee R. Stiles, Jeffrey G. McDonald, David R. Bauman, David W. Russell

Research output: Contribution to journalArticle

59 Scopus citations

Abstract

The CYP7B1 cytochrome P450 enzyme hydroxylates carbons 6 and 7 of the B ring of oxysterols and steroids. Hydroxylation reduces the biological activity of these substrates and facilitates their conversion to end products that are readily excreted from the body. CYP7B1 is expressed in the liver, reproductive tract, and brain and performs different physiological functions in each tissue. Hepatic CYP7B1 activity is crucial for the inactivation of oxysterols and their subsequent conversion into bile salts. Loss of CYP7B1 activity is associated with liver failure in children. In the reproductive tract, the enzyme metabolizes androgens that antagonize estrogen action; mice without CYP7B1 have abnormal prostates and ovaries. The role of CYP7B1 in brain is under investigation; recent studies show that spastic paraplegia type 5, a progressive neuropathy, is caused by loss-of-function mutations in the human gene.

Original languageEnglish (US)
Pages (from-to)28485-28489
Number of pages5
JournalJournal of Biological Chemistry
Volume284
Issue number42
DOIs
Publication statusPublished - Oct 16 2009

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ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Molecular Biology

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