Protein Name cytochrome P450 family 27 subfamily A member 1
Organism Homo sapiens
Gene ID 1593
Gene Symbol


UniProt Q02318 (CP27A_HUMAN)
Relationships Total Number of functionally related compound(s) : 433
Total Number of Articles : 683

cytochrome P450 family 27 subfamily A member 1

Gene Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

  • sterol 26-hydroxylase, mitochondrial
  • 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase
  • 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase
Click to show/hide the synonyms