Key features and details
- Rabbit polyclonal to Bestrophin/BEST1
- Reacts with: Mouse, Rat, Cow, Human
- Isotype: IgG
Product nameAnti-Bestrophin/BEST1 antibody
See all Bestrophin/BEST1 primary antibodies
DescriptionRabbit polyclonal to Bestrophin/BEST1
Species reactivityReacts with: Mouse, Rat, Cow, Human
Predicted to work with: Cynomolgus monkey
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Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Storage bufferpH: 7.40
Preservative: 0.02% Sodium azide
Constituents: Tris glycine, 0.5% BSA, 30% Glycerol
Concentration information loading...
PurityImmunogen affinity purified
FunctionForms calcium-sensitive chloride channels. Highly permeable to bicarbonate.
Tissue specificityPredominantly expressed in the basolateral membrane of the retinal pigment epithelium.
Involvement in diseaseDefects in BEST1 are the cause of vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]; also known as Best macular dystrophy (BMD). VMD2 is 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.
Defects in BEST1 are the cause of retinitis pigmentosa type 50 (RP50) [MIM:613194]. A retinal dystrophy belonging to the group of pigmentary retinopathies. RP 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.
Defects in BEST1 are a cause of adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]. AVMD is a rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
Defects in BEST1 are the cause of bestrophinopathy autosomal recessive (ARB) [MIM:611809]. A retinopathy characterized by central visual loss, an absent electro-oculogram light rise, and a reduced electroretinogram.
Defects in BEST1 are the cause of vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]. A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable and may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.
Sequence similaritiesBelongs to the bestrophin family.
modificationsPhosphorylated by PP2A.
Cellular localizationCell membrane. Basolateral cell membrane.
- Information by UniProt
- ARB antibody
- BEST 1 antibody
- BEST antibody
ab14927 has been referenced in 6 publications.
- McCormick R et al. Optimisation of a Novel Bio-Substrate as a Treatment for Atrophic Age-Related Macular Degeneration. Front Bioeng Biotechnol 8:456 (2020). PubMed: 32500067
- Geng Z et al. Generation of retinal pigmented epithelium from iPSCs derived from the conjunctiva of donors with and without age related macular degeneration. PLoS One 12:e0173575 (2017). PubMed: 28282420
- Lin YH et al. Opening a New Time Window for Treatment of Stroke by Targeting HDAC2. J Neurosci 37:6712-6728 (2017). PubMed: 28592694
- Brennan SC et al. The extracellular calcium-sensing receptor regulates human fetal lung development via CFTR. Sci Rep 6:21975 (2016). PubMed: 26911344
- Guziewicz KE et al. Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies. Invest Ophthalmol Vis Sci 52:4497-505 (2011). PubMed: 21498618
- Günzel D et al. Claudin-16 affects transcellular Cl- secretion in MDCK cells. J Physiol 587:3777-93 (2009). PubMed: 19528248