Key features and details
- Rabbit polyclonal to Bestrophin/BEST1
- Reacts with: Rat, Human
- Isotype: IgG
Product nameAnti-Bestrophin/BEST1 antibody
See all Bestrophin/BEST1 primary antibodies
DescriptionRabbit polyclonal to Bestrophin/BEST1
Species reactivityReacts with: Rat, 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.
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
ab14928 has been referenced in 6 publications.
- Menegaz D et al. Mechanism and effects of pulsatile GABA secretion from cytosolic pools in the human beta cell. Nat Metab 1:1110-1126 (2019). PubMed: 32432213
- Chen CY et al. N-Terminomics identifies HtrA1 cleavage of thrombospondin-1 with generation of a proangiogenic fragment in the polarized retinal pigment epithelial cell model of age-related macular degeneration. Matrix Biol N/A:N/A (2018). ICC/IF ; Human . PubMed: 29572155
- Juuti-Uusitalo K et al. Autophagy Regulates Proteasome Inhibitor-Induced Pigmentation in Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells. Int J Mol Sci 18:N/A (2017). PubMed: 28534814
- Bennis A et al. Stem Cell Derived Retinal Pigment Epithelium: The Role of Pigmentation as Maturation Marker and Gene Expression Profile Comparison with Human Endogenous Retinal Pigment Epithelium. Stem Cell Rev 13:659-669 (2017). ICC/IF ; Human . PubMed: 28730556
- Subrizi A et al. Generation of hESC-derived retinal pigment epithelium on biopolymer coated polyimide membranes. Biomaterials 33:8047-54 (2012). ICC/IF ; Human . 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 Sci 52:4497-505 (2011). PubMed: 21498618