25-Hydroxyvitamin D 1-alpha-hydroxylase

25-Hydroxyvitamin D 1-alpha-hydroxylase (VD 1A hydroxylase) also known as 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):
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.