Title : Genetic Diseases of Vitamin D Metabolizing Enzymes.

Pub. Date : 2017 Dec

PMID : 29080636






1 Functional Relationships(s)
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Protein Name
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1 Mutations of the activating enzymes CYP2R1 and CYP27B1 cause lack of normal 1,25-(OH)2D3 synthesis and result in rickets whereas mutations of the inactivating enzyme CYP24A1 cause build-up of excess 1,25-(OH)2D3 and result in hypercalcemia, nephrolithiasis, and nephrocalcinosis. Calcitriol cytochrome P450 family 24 subfamily A member 1 Homo sapiens