25-Hydroxyvitamin D 1-alpha-hydroxylase

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25-Hydroxyvitamin D 1-alpha-hydroxylase (VD 1A hydroxylase) also known as calcidiol 1-monooxygenase [1] or cytochrome p450 27B1 (CYP27B1) or simply 1-alpha-hydroxylase is a cytochrome P450 enzyme that in humans is encoded by the CYP27B1 gene.[2][3][4]

VD 1A hydroxylase is located in the proximal tubule of the kidney and a variety of other tissues, including skin (keratinocytes), immune cells,[5] and bone (osteoblasts).[6]

Reactions

The enzyme catalyzes the hydroxylation of calcifediol to calcitriol (the bioactive form of Vitamin D):[7]

calcidiol + 2 reduced adrenodoxin + 2 H+ + O2 Template:Eqm calcitriol + 2 oxidized adrenodoxin + H2O

The enzyme is also able to oxidize ercalcidiol (25-OH D2) to ercalcitriol, secalciferol to calcitetrol, and 25-hydroxy-24-oxocalciol to (1S)-1,25-dihydroxy-24-oxocalciol.[8]

Clinical significance

Loss-of-function mutations in CYP27B1 cause Vitamin D-dependent rickets, type IA.[9]

Interactive pathway map

Template:VitaminDSynthesis WP1531

References

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Further reading

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External links

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