Total CYP2R1 Cell-Based Colorimetric ELISA Kit
- Catalog No.:KA3893C
- Applications:ELISA
- Reactivity:Human;Mouse
- Gene Name:
- CYP2R1
- Human Gene Id:
- 120227
- Human Swiss Prot No:
- Q6VVX0
- Mouse Swiss Prot No:
- Q6VVW9
- Storage Stability:
- 2-8°C/6 months
- Other Name:
- Vitamin D 25-hydroxylase (EC 1.14.13.159) (Cytochrome P450 2R1)
- Detection Method:
- Colorimetric
- Background:
- catalytic activity:5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol + NADPH + O(2) = (25R)-5-beta-cholestane-3-alpha,7-alpha,12-alpha,26-tetraol + NADP(+) + H(2)O.,cofactor:Heme group.,disease:Defects in CYP2R1 are a cause of 25-hydroxyvitamin D(3) deficiency (25HOD3D)[MIM:600081]; also known as pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. First described in patients who had rickets at a young age despite a history of adequate vitamin D intake. The patients sera had low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity, and low levels of 25-hydroxyvitamin D.,function:Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).,similarity:Belongs to the cytochrome P450 family.,subunit:Homodimer.,
- Function:
- vitamin metabolic process, fat-soluble vitamin metabolic process, steroid metabolic process, vitamin D metabolic process, oxidation reduction,
- Subcellular Location:
- Endoplasmic reticulum membrane ; Peripheral membrane protein. Microsome membrane ; Peripheral membrane protein.
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