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Details on Person Catabolic inactivation of the active, hormonal form of vitam...

Class:IdSummation:5601993
_displayNameCatabolic inactivation of the active, hormonal form of vitam...
_timestamp2014-09-08 17:15:53
created[InstanceEdit:5602016] Jassal, Bijay, 2014-06-16
modified[InstanceEdit:5622022] Jassal, Bijay, 2014-09-08
textCatabolic 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 (Schlingmann et al. 2011).
(summation)[Pathway:5579010] Defective CYP24A1 causes HCAI [Homo sapiens]
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