Pathway
Defective CYP24A1 causes HCAI
Catabolic inactivation of the active, hormonal form of vitamin D3 (calcitriol, CALTOL, 1,25-dihydroxyvitamin D3) is initially carried out by 24-hydroxylation, mediated by 1,25-dihydroxyvitamin D3 24-hydroxylase (CYP24A1). The product formed is eventually transformed to calcitroic acid, the major water-soluble metabolite that can be excreted in bile. Defects in CYP24A1 can cause hypercalcemia infantile (HCAI; MIM:143880), a disorder characterised by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.
REACT:R-HSA-5579010Reactome
What the reference databases state
Statements
1 statement
1 statement · 1 reference database · Subject: Defective CYP24A1 causes HCAI · Sources: Reactome
- CYP24A1 participates in Defective CYP24A1 causes HCAIProteinReactome R-HSA-5579010Inferred only