159413115ENSG00000111012ENSMUSG00000006724O15528O35084NM_000785NM_010009NP_000776NP_03413925-Hydroxyvitamin D 1-alpha-hydroxylase (VD 1A hydroxylase) also known as calcidiol 1-monooxygenase [5] or cytochrome p450 27B1 (CYP27B1) or simply 1-alpha-hydroxylase is a cytochrome P450 enzyme that in humans is encoded by the CYP27B1 gene.

[6][7][8] VD 1A hydroxylase is located in the proximal tubule of the kidney and a variety of other tissues, including skin (keratinocytes), immune cells,[9] and bone (osteoblasts).

[10] The enzyme catalyzes the hydroxylation of calcifediol to calcitriol (the bioactive form of Vitamin D):[11] 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.

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

[13] Click on genes, proteins and metabolites below to link to respective articles.