Biochem/physiol Actions

Cytochrome P450 family 24 subfamily A member 1 (CYP24A1) plays a vital role in side-chain oxidation of steroid hormone vitamin D. Variation in or increased expression of CYP24A1 results in colorectal cancer (CRC); thus, CYP24A1 has potential as a biomarker for CRC. Biallelic mutation of CYP24A1 is observed in patients with idiopathic infantile hypercalcemia (IIH), low parathyroid hormone (PTH), renal disease, and it might also increase the risk of nephrocalcinosis in adults. Promoter polymorphism in the CYP24A1 gene leads to thechronic inflammatory skin disease called atopic dermatitis (AD) in adults. CYP24A1 transcript is highly expressed in ovary and lung tumors, but its expression is decreased in breast tumor when compared to the analogous normal tissues.

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General description

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 initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq)

Immunogen

CYP24A1 (NP_000773, 415 a.a. ~ 514 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceLMLNTQVLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIVRKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR

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Physical form

Solution in phosphate buffered saline, pH 7.4