Defective CYP24A1 does not 24-hydroxylate CALTOL

Stable Identifier
R-HSA-5602004
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. CYP24A1 mutations causing HCAI include C477Lfs*14, E143del, E151*, R159Q, R396W and E322K (Schlingmann et al. 2011).

Literature References
PubMed ID Title Journal Year
21675912 Mutations in CYP24A1 and idiopathic infantile hypercalcemia

Schlingmann, KP, Kaufmann, M, Weber, S, Irwin, A, Goos, C, John, U, Misselwitz, J, Klaus, G, Kuwertz-Bröking, E, Fehrenbach, H, Wingen, AM, Güran, T, Hoenderop, JG, Bindels, RJ, Prosser, DE, Jones, G, Konrad, M

N. Engl. J. Med. 2011
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity of CYP24A1 mutants [mitochondrial inner membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
hypercalcemia 12678 hypercalcemia (disorder), hypercalcinemia, hypercalcaemia, hyperCALCEMIA, hypercalcemia, hypercalcaemia
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Reviewed
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