CYP2R1, Polyclonal Antibody

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Affinity Purification

Store at -20 degree C. Avoid freeze/thaw cycles.

Small volumes of anti-CYP2R1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency.

Primary antibody

Western Blot (WB)

WB: 1:500 - 1:2000

Western blot analysis of extracts of various cell lines, using CYP2R1 antibody at 1:1000 dilution.
Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.
Lysates/proteins: 25ug per lane.
Blocking buffer: 3% nonfat dry milk in TBST.
Detection: ECL Basic Kit.
Exposure time: 15s.

57kDa

cytochrome P450 family 2 subfamily R member 1

vitamin D 25-hydroxylase

Vitamin D 25-hydroxylase

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]

CYP2R1: Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3). Defects in CYP2R1 are the cause of rickets vitamin D- dependent type 1B (VDDR1B); 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. Belongs to the cytochrome P450 family.

Protein type: EC 1.14.13.15; Oxidoreductase

Chromosomal Location of Human Ortholog: 11p15.2

Cellular Component: endoplasmic reticulum membrane

Molecular Function: vitamin D3 25-hydroxylase activity

Biological Process: vitamin D metabolic process; vitamin metabolic process

Disease: Vitamin D Hydroxylation-deficient Rickets, Type 1b

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