Article
CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations.
The Journal of steroid biochemistry and molecular biology - 1 Oct 2017
Carpenter Thomas O
Abstract excerpt
CYP24A1, encoding the vitamin D-24-hydroxylase, is of major clinical and physiologic importance, serving to regulate the catabolism of 1,25-(OH)2D, the physiologically active vitamin D metabolite. In addition to facilitating catabolism of 1,25-(OH)2D, CYP24A1 also enhances the turnover and elimination of 25-OHD, the abundant precursor metabolite and storage form of the vitamin. CYP24A1 can be stimulated...
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