25-Hydroxyvitamin D 1-alpha-hydroxylase

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

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

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


 * calcidiol + 2 reduced adrenodoxin + 2 H+ + O2  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.

Clinical significance
Loss-of-function mutations in CYP27B1 cause Vitamin D-dependent rickets, type IA.