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Cytochrome P450 family 24 subfamily A member 1
- Molecular classification
- Enzyme, Cytochrome P450, Monooxygenase
01
Overview
Cytochrome P450 24A1 (CYP24A1) is a mitochondrial enzyme that functions as a monooxygenase, primarily involved in the metabolism of vitamin D. It catalyzes the breakdown of active vitamin D (calcitriol) and stored vitamin D (calcidiol) into inactive metabolites, thereby regulating calcium and phosphate balance. Mutations in CYP24A1 can lead to hypercalcemia syndromes. Genetic variants are linked with altered cancer risk.
- Other names
- CYP24A125-hydroxyvitamin D3-24-hydroxylase24-hydroxylase
02
Mechanism of action
Not applicable - CYP24A1 is an enzyme that degrades vitamin D, not a drug target itself, but drugs could theoretically target it to modulate Vitamin D levels.
03
Biological functions
Vitamin D metabolismCalcium homeostasisPhosphate homeostasis
04
Disease associations
Idiopathic Infantile HypercalcemiaHypercalcemiaHypercalciuriaNephrolithiasisNephrocalcinosisCancer
05
Safety considerations
Modulation of CYP24A1 activity could disrupt calcium homeostasis, leading to hyper- or hypocalcemia.
06
Biomarkers
Calcidiol (25-hydroxyvitamin D)Calcitriol (1,25-dihydroxyvitamin D₃)
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