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Defective CYP27B1 causes VDDR1B
Stable Identifier
R-HSA-5579027
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
ReviewStatus
5/5
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP27B1 causes VDDR1B (Homo sapiens)
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Vitamin D3 (cholecalciferol), synthesised in human skin by ultraviolet radiation action on 7-dehydrocholesterol, does not possess any biological activity. Vitamin D hormonal activity requires hydroxylation at the 25 and 1-alpha positions by cytochrome P450 enzymes CYP2R1 and CYP27B1 respectively.
Vitamin D 25-hydroxylase (CYP2R1) catalyses the hydroxylation of vitamin D3 to calcidiol (CDL). Subsequent 1-alpha-hydroxylation of CDL produces calcitriol (CTL). CTL binds and activates the nuclear vitamin D receptor, with subsequent regulation of physiologic events such as calcium homeostasis, cellular differentiation and proliferation.
Defects in CYP2R1 can cause rickets, vitamin D-dependent 1B (VDDR1B; MIM:600081), a disorder caused by a selective deficiency of the active form of vitamin D (CTL) resulting in defective bone mineralization and clinical features of rickets (Pikuleva et al. 2013).
Literature References
PubMed ID
Title
Journal
Year
23632021
Cytochromes p450: roles in diseases
Pikuleva, IA
,
Waterman, MR
J. Biol. Chem.
2013
Participants
Events
Defective CYP2R1 does not 25-hydroxylate vitamin D
(Homo sapiens)
Participates
as an event of
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Disease
Name
Identifier
Synonyms
rickets
DOID:10609
vitamin D-dependent rickets, active rickets, Rickets, active
Authored
Jassal, B (2014-06-06)
Reviewed
Nakaki, T (2014-11-03)
Created
Jassal, B (2014-06-06)
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