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Mouse Anti-CYP2R1 Recombinant Antibody (CBWJC-2107) (CBMAB-C2807WJ)

This product is a Mouse antibody that recognizes CYP2R1. This antibody CBWJC-2107 can be used for immunoassay techniques such as: WB, ELISA, IHC.
See all CYP2R1 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse
Clone
CBWJC-2107
Antibody Isotype
IgG
Application
WB, ELISA, IHC

Basic Information

Immunogen
Ovalbumin-conjugated synthetic peptide QPYLICAERR (C-terminal sequence)
Specificity
Human, Mouse
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Concentration
1 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Cytochrome P450 Family 2 Subfamily R Member 1
Introduction
CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1) is a Protein Coding gene. Diseases associated with CYP2R1 include Vitamin D Hydroxylation-Deficient Rickets, Type 1B and Hypocalcemic Vitamin D-Dependent Rickets. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP2J2.
Entrez Gene ID
Human120227
Mouse244209
UniProt ID
HumanQ6VVX0
MouseQ6VVW9
Alternative Names
Cytochrome P450 Family 2 Subfamily R Member 1; Cytochrome P450, Family 2, Subfamily R, Polypeptide 1; Cytochrome P450 2R1; EC 1.14.14.24;
Function
A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D2 and D3 (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070).

Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D2 (doxercalciferol) and 1alpha-hydroxyvitamin D3 (alfacalcidol) forming 25-hydroxy derivatives (PubMed:15465040, PubMed:18511070).

Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:12867411, PubMed:15465040, PubMed:18511070).
Biological Process
Calcitriol biosynthetic process from calciol Source: UniProtKB
Exogenous drug catabolic process Source: GO_Central
Organic acid metabolic process Source: GO_Central
Response to cesium ion Source: Ensembl
Response to ionizing radiation Source: Ensembl
Vitamin D metabolic process Source: Reactome
Vitamin metabolic process Source: Reactome
Xenobiotic metabolic process Source: GO_Central
Cellular Location
Endoplasmic reticulum membrane; Microsome membrane
Involvement in disease
Rickets vitamin D-dependent 1B (VDDR1B):
An autosomal recessive 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 activity and low levels of 25-hydroxyvitamin D.

Jones, P., Lucock, M., Chaplin, G., Jablonski, N. G., Veysey, M., Scarlett, C., & Beckett, E. (2020). Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations. Genes & Nutrition, 15(1), 1-11.

Ma, X., Xie, Z., Qin, J., Luo, S., & Zhou, Z. (2020). Association of vitamin D pathway gene CYP27B1 and CYP2R1 polymorphisms with autoimmune endocrine disorders: a meta-analysis. The Journal of Clinical Endocrinology & Metabolism, 105(11), 3575-3587.

Elkhwanky, M. S., Kummu, O., Piltonen, T. T., Laru, J., Morin‐Papunen, L., Mutikainen, M., ... & Hakkola, J. (2020). Obesity represses CYP2R1, the vitamin D 25‐hydroxylase, in the liver and extrahepatic tissues. JBMR plus, 4(11), e10397.

Scazzone, C., Agnello, L., Ragonese, P., Lo Sasso, B., Bellia, C., Bivona, G., ... & Ciaccio, M. (2018). Association of CYP2R1 rs10766197 with MS risk and disease progression. Journal of neuroscience research, 96(2), 297-304.

Roizen, J. D., Casella, A., Lai, M., Long, C., Tara, Z., Caplan, I., ... & Levine, M. A. (2018). Decreased serum 25-hydroxyvitamin D in aging male mice is associated with reduced hepatic Cyp2r1 abundance. Endocrinology, 159(8), 3083-3089.

Duan, L., Xue, Z., Ji, H., Zhang, D., & Wang, Y. (2018). Effects of CYP2R1 gene variants on vitamin D levels and status: A systematic review and meta-analysis. Gene, 678, 361-369.

Manousaki, D., Dudding, T., Haworth, S., Hsu, Y. H., Liu, C. T., Medina-Gómez, C., ... & Richards, J. B. (2017). Low-frequency synonymous coding variation in CYP2R1 has large effects on vitamin D levels and risk of multiple sclerosis. The American Journal of Human Genetics, 101(2), 227-238.

Thacher, T. D., & Levine, M. A. (2017). CYP2R1 mutations causing vitamin D-deficiency rickets. The Journal of steroid biochemistry and molecular biology, 173, 333-336.

Slater, N. A., Rager, M. L., Havrda, D. E., & Harralson, A. F. (2017). Genetic variation in CYP2R1 and GC genes associated with vitamin D deficiency status. Journal of pharmacy practice, 30(1), 31-36.

Arabi, A., Khoueiry-Zgheib, N., Awada, Z., Mahfouz, R., Al-Shaar, L., Hoteit, M., ... & El Hajj Fuleihan, G. (2017). CYP2R1 polymorphisms are important modulators of circulating 25-hydroxyvitamin D levels in elderly females with vitamin insufficiency, but not of the response to vitamin D supplementation. Osteoporosis International, 28(1), 279-290.

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For research use only. Not intended for any clinical use.

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