Title : High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency.

Pub. Date : 2021 Jul

PMID : 34307984






1 Functional Relationships(s)
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1 Introduction: Loss-of-function variants in the CYP24A1 gene cause a rare hereditary disease characterized by reduced 24-hydroxylase enzyme activity, increased serum 1,25-dihydroxycholecalciferol levels, hypercalcemia, hypercalciuria, and nephrocalcinosis and/or nephrolithiasis. Calcitriol cytochrome P450 family 24 subfamily A member 1 Homo sapiens