The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
ICC/IF: Use at an assay dependent dilution.
WB: 1/500. Predicted molecular weight: 68 kDa.
Not tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.
Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
Involvement in disease
Defects 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.
Immunocytochemistry/ Immunofluorescence - Anti-Bestrophin antibody (ab14928)Image from Subrizi A et al., Biomaterials 33 (2012) 8047e8054, 11 August 2012. Fig 4.; doi: 10.1016/j.biomaterials.2012.07.033. Epub 2012 Aug 11, with permission from Elsevier.
Immunofluorescence analysis of hESC-RPE monolayers, staining Bestrophin with ab14928.
Cells were fixed with 4% paraformaldehyde, permeabilized with 0.1% Triton X-100 and blocked with 3% BSA for 1 hour. Cells were incubated with primary antibody (1/500) for 1 hour at room temperature. An AlexaFluor®568-conjugated goat anti-rabbit IgG (1/800) was used as the secondary antibody.
Subrizi A et al. Generation of hESC-derived retinal pigment epithelium on biopolymer coated polyimide membranes. Biomaterials33:8047-54 (2012).
Read more (PubMed: 22892561) »
Guziewicz KE et al. Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies. Invest Ophthalmol Vis Sci52:4497-505 (2011).
Read more (PubMed: 21498618) »