CYP27A1


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CYP27A1

A gene on chromosome 2q33-qter that encodes a member of the cytochrome P450 superfamily of enzymes, which catalyse reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP27A1 is a mitochondrial protein that oxidises cholesterol intermediates as part of the bile-synthesis pathway. It catalyses the first step in the oxidation of the side chain of sterol intermediates and has a vitamin D3-25-hydroxylase activity. Because the conversion of cholesterol to bile acids is the major route for eliminating cholesterol from the body, CYP27A1 is important for cholesterol homeostasis.

Molecular pathology
CYP27A1 mutations cause cerebrotendinous xanthomatosis.
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References in periodicals archive ?
CTX is a consequence of mutations in the CYP27A1 gene.
9] Human genes: CYP7B1, cytochrome P450, family 7, subfamily B, polypeptide 1; CYP7A1, cytochrome P450, family 7, subfamily A, polypeptide 1; CYP27A1, cytochrome P450, family 27, subfamily A, polypeptide 1.
2) It is caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected tissues (3) CTX manifests as tendon xanthomas, juvenile cataracts and seizures multiple progressive neurological symptoms.
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
2) Once vitamin D3 reaches the liver, hydroxylation by CYP27A1 occurs to form 25(OH)D which is the major circulating form and best indicator of vitamin D status.
Crucial proteins for the activation of vitamin D are the enzyme CYP27A1, which has 25-hydroxylase activity (McCullough et al.
Gene HT Chr Index SNP [chi MAF square] CYP27A1 HTa 2 rs43315171 0.
In contrast, almost all cells in the body contain the enzyme sterol 27hydroxylase, especially hepatocytes and macrophages, encoded by CYP27A1 contributing via side-chain oxidation to cholesterol elimination as an alternative to the HDL-mediated reversed cholesterol transport.
CTX is caused by a defect in the CYP27A1 [4] gene, which encodes the mitochondrial enzyme sterol 27-hydroxylase (EC 1.