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CYP24A1 Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23- hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product. Defects in CYP24A1 are the cause of hypercalcemia infantile (HCAI). HCAI is a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Belongs to the cytochrome P450 family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 20q13.2
Cellular Component: mitochondrial outer membrane; mitochondrion; nucleoplasm; nucleus; plasma membrane
Molecular Function: 1-alpha,25-dihydroxyvitamin D3 (1,25-(OH)2D3) 24-hydroxylase activity; heme binding
Biological Process: osteoblast differentiation; response to vitamin D; vitamin D metabolic process; vitamin metabolic process
Disease: Hypercalcemia, Infantile
Reference #:  Q07973 (UniProtKB)
Alt. Names/Synonyms: 1,25-@dihydroxyvitamin D3 24-hydroxylase; 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial; 24-OHase; CP24; CP24A; CYP24; CYP24A1; Cytochrome P450 24A1; cytochrome P450, family 24, subfamily A, polypeptide 1; cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase); Cytochrome P450-CC24; exo-mitochondrial protein; MGC126273; MGC126274; P450-CC24; vitamin D 24-hydroxylase; Vitamin D(3) 24-hydroxylase
Gene Symbols: CYP24A1
Molecular weight: 58,875 Da
Basal Isoelectric point: 8.94  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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