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25-Hydroxyvitamin D 1-alpha-hydroxylase

Mammalian protein found in humans

Mammalian protein found in humans

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.

Image:Calcidiol2.svg|Calcidiol Image:Calcitriol.svg |Calcitriol

Clinical significance

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

Interactive pathway map

References

References

  1. "Entrez Gene: cytochrome P450".
  2. (Sep 1997). "25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis". Science.
  3. (Oct 1997). "Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase". Biochemical and Biophysical Research Communications.
  4. (Mar 2007). "DCs metabolize sunlight-induced vitamin D3 to 'program' T cell attraction to the epidermal chemokine CCL27". Nature Immunology.
  5. (Oct 2010). "Osteoclastic metabolism of 25(OH)-vitamin D3: a potential mechanism for optimization of bone resorption". Endocrinology.
  6. (Dec 1972). "25-Hydroxycholecalciferol-1-hydroxylase. Subcellular location and properties". The Journal of Biological Chemistry.
  7. (November 1999). "Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli". European Journal of Biochemistry.
  8. {{OMIM. 264700. VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A
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