Species Human Entrez 1591 | Human Mouse Ensembl ENSG00000019186 | |
 | ||
Aliases CYP24A1, CP24, CYP24, HCAI, P450-CC24, cytochrome P450 family 24 subfamily A member 1, HCINF1 External IDs MGI: 88593 HomoloGene: 68094 GeneCards: CYP24A1 | ||
1,25-dihydroxyvitamin D3 24-hydroxylase, mitochondrial is an enzyme that in humans is encoded by the CYP24A1 gene. Its expression is translationally regulated via IRES within the 5'UTR, which is responsive to an inflammatory environment.
Contents
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids.
Function
This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain to form calcitroic acid.
In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system.
CYP24A1 could play a role in Severe Infantile Hypercalcemia.
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.