Defective CYP24A1 does not 24-hydroxylate CALTOL

Stable Identifier
R-HSA-5602004
Type
Reaction [transition]
Species
Homo sapiens
Compartment
mitochondrial matrix, mitochondrial inner membrane
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective CYP24A1 does not 24-hydroxylate CALTOL
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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

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

N. Engl. J. Med. 2011
Participants
Input
Participates
as an event of
Catalyst Activity

1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity of CYP24A1 mutants [mitochondrial inner membrane]

Physical Entity
CYP24A1 mutants [mitochondrial inner membrane] (Homo sapiens)
Activity
1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)
Normal reaction
CYP24A1 24-hydroxylates CTL (Homo sapiens)
Functional status

Loss of function of CYP24A1 mutants [mitochondrial inner membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
hypercalcemia DOID:12678 hypercalcemia (disorder), hypercalcinemia, hypercalcaemia, hyperCALCEMIA, hypercalcemia, hypercalcaemia
Authored
Jassal, B  (2014-06-16)
Reviewed
Nakaki, T  (2014-11-03)
Created
Jassal, B  (2014-06-16)
Cite Us!