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

This product is a mouse antibody that recognizes BEST1 of human. The antibody E6-6 can be used for immunoassay techniques such as: WB, IF, IHC-Fr, IHC-P, IP.
See all BEST1 antibodies
Published Data
Fig.1 Immunofluorescence analysis of markers expressed into hRPE cells ZO-1, Pax6, Tyrosinase and Bestrophin-1.
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Fig.2 Western blots show similar BEST1 expression levels in WT and patient-derived iPSC-RPEs.
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Summary

Host Animal
Mouse
Specificity
Human
Clone
E6-6
Antibody Isotype
IgG1, κ
Application
WB, IF, IHC-P, IP

Basic Information

Immunogen
Synthetic peptide conjugated to KLH corresponding to the C-terminus of human Bestrophin 1
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.
ApplicationNote
WB1:100-1:1,000
IP1-2 µg per 100-500 µg of total protein (1 ml of cell lysate)
IF(ICC)1:50-1:500
IHC-P1:50-1:500

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

Format
Liquid
Buffer
PBS, 0.1% gelatin
Preservative
< 0.1% sodium azide
Concentration
0.2 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
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. 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.
Entrez Gene ID
Human7439
Cat101084904
Rat293735
Pig397169
UniProt ID
HumanO76090
CatA0A5F5XG26
RatQ6AYG9
PigQ8WMR7
Alternative Names
ARB; BMD; BEST; RP50; VMD2; TU15B
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.

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

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