CYP24A1 : cytochrome P450 family 24 subfamily A member 1


Description

The CYP24A1 (cytochrome P450 family 24 subfamily A member 1) is a protein-coding gene located on chromosome 20.

The CYP24A1 gene provides instructions for making an enzyme called 24-hydroxylase. This enzyme helps control the amount of active vitamin D available in the body. When active, vitamin D is involved in maintaining the proper balance of several minerals in the body, including calcium and phosphate, which are essential for the normal formation of bones and teeth. One of vitamin D's major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream. Vitamin D is also involved in several processes in addition to bone and tooth formation. The 24-hydroxylase enzyme breaks down the active form of vitamin D, called 1,25-dihydroxyvitamin D3 or calcitriol, to an inactive form when the vitamin is no longer needed. The enzyme also breaks down 25-hydroxyvitamin D (also known as calcidiol), which is the form of vitamin D that is stored in the body.

A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid. With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product. Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S- hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin.

CYP24A1 is also known as CP24, CYP24, HCAI, HCINF1, P450-CC24.

Associated Diseases


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