The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/10 - 1/50.
1/50 - 1/100. Predicted molecular weight: 57 kDa.
Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).
Involvement in disease
Defects in CYP2R1 are the cause of rickets vitamin D-dependent type 1B (VDDR1B) [MIM:600081]; also known as pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activityand low levels of 25-hydroxyvitamin D.
ab80101 at 1/50 dilution staining CYP2R1 in human brain tissue section by Immunohistochemistry (Formalin/ PFA fixed paraffin-embedded sections). A peroxidase conjugated secondary antibody was used followed by DAB staining.
O'Shaughnessy PJ et al. Maternal smoking and fetal sex significantly affect metabolic enzyme expression in the human fetal liver. J Clin Endocrinol Metab96:2851-60 (2011).
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