Mouse Anti-BEST1 Recombinant Antibody (1C2) (CBMAB-A9885-LY)

Name: Mouse Anti-BEST1 Recombinant Antibody (1C2)
SKU: CBMAB-A9885-LY
Rating: 5 (1 reviews)

See all BEST1 antibodies

Compare Online Inquiry

Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

1C2

Application

WB, ELISA

Immunogen

VMD2 (AAH41664, 361 a.a. ~ 460 a.a) partial recombinant protein with GST tag.

Host Species

Mouse

Specificity

Human

Antibody Isotype

IgG1, κ

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!]

Format

Liquid

Buffer

PBS, pH 7.4

Preservative

None

Concentration

Batch dependent

Purity

> 95% Purity determined by SDS-PAGE.

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

More Infomation

Target

Full Name

Bestrophin 1

Introduction

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms

Entrez Gene ID

7439

UniProt ID

O76090

Alternative Names

ARB; BEST; BMD; TU15B; VMD2

Function

Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.

Biological Process

Chloride transmembrane transport Source: InterPro
Chloride transport Source: MGI
Detection of light stimulus involved in visual perception Source: Ensembl
Ion transmembrane transport Source: Reactome
Regulation of calcium ion transport Source: Ensembl
Transepithelial chloride transport Source: HGNC-UCL
Visual perception Source: ProtInc

Cellular Location

Cell membrane; Basolateral cell membrane

Involvement in disease

Macular dystrophy, vitelliform, 2 (VMD2): An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.
Retinitis pigmentosa 50 (RP50): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Bestrophinopathy, autosomal recessive (ARB): A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.
Vitreoretinochoroidopathy, autosomal dominant (ADVIRC): A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.

Topology

Cytoplasmic: 1-25 aa
Helical: 26-46 aa
Extracellular: 47-70 aa
Helical: 71-91 aa
Cytoplasmic: 92-178 aa
Helical: 179-199 aa
Extracellular: 200-228 aa
Intramembrane: 229-249 aa
Extracellular: 250-270 aa
Helical: 271-291 aa
Cytoplasmic: 292-585 aa

Pappalardo, J., Jeffery, R. C. H., Thompson, J. A., Chelva, E., Pham, Q., Constable, I. J., ... & Chen, F. K. (2021). A novel phenotype in a family with autosomal dominant retinal dystrophy due to c. 1430A> G in retinoid isomerohydrolase (RPE65) and c. 37C> T in bestrophin 1 (BEST1). Documenta Ophthalmologica, 1-13.

Singh Grewal, S., Smith, J. J., & Carr, A. J. F. (2021). Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies. Therapeutic Advances in Ophthalmology, 13, 2515841421997191.

Gao, F. J., Qi, Y. H., Hu, F. Y., Wang, D. D., Xu, P., Guo, J. L., ... & Wu, J. H. (2020). Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy. British Journal of Ophthalmology, 104(6), 846-851.

Cordes, M., Bucichowski, P., Alfaar, A. S., Tsang, S. H., Almedawar, S., Reichhart, N., & Strauß, O. (2020). Inhibition of Ca2+ channel surface expression by mutant bestrophin‐1 in RPE cells. The FASEB Journal, 34(3), 4055-4071.

Park, M., Jung, H. G., Kweon, H. J., Kim, Y. E., Park, J. Y., & Hwang, E. M. (2019). The E3 ubiquitin ligase, NEDD4L (NEDD4-2) regulates bestrophin-1 (BEST1) by ubiquitin-dependent proteolysis. Biochemical and biophysical research communications, 514(1), 344-350.

Milenkovic, A., Schmied, D., Tanimoto, N., Seeliger, M. W., Sparrow, J. R., & Weber, B. H. (2019). The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy. Biology open, 8(7), bio041335.

Lin, Y., Li, T., Ma, C., Gao, H., Chen, C., Zhu, Y., ... & Lu, L. (2018). Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy. Molecular medicine reports, 17(1), 225-233.

Johnson, A. A., Guziewicz, K. E., Lee, C. J., Kalathur, R. C., Pulido, J. S., Marmorstein, L. Y., & Marmorstein, A. D. (2017). Bestrophin 1 and retinal disease. Progress in retinal and eye research, 58, 45-69.

Oh, S. J., & Lee, C. J. (2017). Distribution and function of the bestrophin-1 (Best1) channel in the brain. Experimental neurobiology, 26(3), 113.

Lin, Y., Li, T., Gao, H., Lian, Y., Chen, C., Zhu, Y., ... & Lu, L. (2017). Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. Molecular medicine reports, 16(4), 4751-4755.

Ask a question We look forward to hearing from you.

0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Have you used Mouse Anti-BEST1 Recombinant Antibody (1C2)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon

$30 eGift Card
Submit a review

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

Related Products

Mouse Anti-BEST1 Recombinant Antibody (E6-6) (CAT#: CBMAB-1209-CN)

Mouse Anti-BEST1 Recombinant Antibody (CF050) (CAT#: CBMAB-FT433LY)

Isotype control

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

Online Inquiry

Request bulk or custom quote Second antibody and isotype control

Contact us

Tel: (USA)
(UK)
Fax:

Global Locations

Email:

Online Inquiry