Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)

Stable Identifier
R-HSA-5579027
Type
Pathway
Species
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
Participant Of
Disease
Name Identifier Synonyms
rickets 10609 vitamin D-dependent rickets, active rickets, Rickets, active
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