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BEST1 encodes a member of the bestrophin gene family. Additionally we are shipping Bestrophin 1 Antibodies (30) and many more products for this protein.
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Bestrophin 1 (dBest1) as the Drosophila Cl(swell) channel
bestrophin-1 chloride current is dually regulated by calcium and cell volume
We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the autosomal recessive bestrophinopathy phenotype.
The findings in this family emphasize the previously noted variability of clinical manifestations in BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) and the relevance of FAF and NIA imaging. Cystoid macular edema and vascular leakage can be successfully treated using dorzolamide.
For patients with Best vitelliform macular dystrophy, single heterozygous BEST1 mutations were identified in 13 patients and compound heterozygous mutations were found in 3 patients. For patients with autosomal recessive bestrophinopathy, biallelic mutations were found in 13 probands and single mutant alleles in six patients. Overall, 36 disease-causing variants (20 novel mutations) of the BEST1 gene were identified.
Mutation in BEST1 has variable penetrance and expressivity, and can be uniocular.
We identified 7 BEST1 variants, 2 of which were new in 9 cases of Japanese patients with autosomal recessive bestrophinopathy.
Of the 225 genetic tests performed, 150 were for recessive IRD, and 75 were for dominant IRD. A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD and 19 (26%) probands with dominant IRD. Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (show ABCA4 Proteins) (14), BEST1 (2), PRPH2 (show PRPH2 Proteins) (1), and TIMP3 (show TIMP3 Proteins)
We describe the atypical phenotype and high intrafamilial variability associated with a new mutation in the BEST1 gene in an Italian family affected with Best vitelliform macular dystrophy.
A clinical picture similar to autosomal recessive bestrophinopathy can also be caused by a single heterozygous mutation in the BEST1 gene, such as the c.614T>C (p.I205T) variant in this family.
The secondary structure of Best1 and the effect of calcium have been described.
BVMD could present with other ocular disorders such as ACG and FCE (show FECH Proteins). We also found 2 novel disease-causing mutations (p.Thr307Asp, p.Arg47His) of the BEST1 gene, one of which (p.Arg47His) has also been reported in adult-onset vitelliform macular dystrophy (AVMD (show PRPH2 Proteins))
Data suggest that the ion channels CaV1.3 (show CACNA1D Proteins), bestrophin-1 and maxiK (show KCNMA1 Proteins) were identified as players in the regulation of photoreceptor outer segments (POS) phagocytosis by the retinal pigment epithelium (RPE (show RPE Proteins)).
Best1-mediated astrocytic glutamate (show GRIN1 Proteins) activates the synaptic N-methyl-D-aspartate receptor (show GRIN1 Proteins) (NMDAR (show GRIN1 Proteins)) and modulates NMDAR (show GRIN1 Proteins)-dependent synaptic plasticity.
Bestrophin-1 functions as an intracellular Cl channel which helps to accumulate and to release Ca(2 (show CA2 Proteins)+) from stores by conducting the counterion for Ca(2 (show CA2 Proteins)+).
Best1, located at the microdomains near the synaptic junctions, has a significantly high permeability to glutamate (show GRIN1 Proteins) in vivo.
Results show that different mutations in Best1 cause differential effects on its localization and that this effect varies with the presence or absence of wild-type (WT) Best1.
Astrocytic glutamate (show GRIN1 Proteins) via Best1 channel targets and activates synaptic NMDA receptors.
Upon activation of protease activated receptor 1 (PAR1 (show F2R Proteins)), an increase in intracellular Ca2 (show CA2 Proteins)+ concentration leads to an opening of Best1 channels and subsequent release of glutamate (show GRIN1 Proteins) in cultured astrocytes.
Ultrastructural analyses demonstrate that TREK-1 (show KCNK2 Proteins) is preferentially localized at cell body and processes, whereas Best1 is mostly found in microdomains of astrocytes near synapses.
study reports that tonic inhibition in the cerebellum is due to GABA being released from glial cells by permeation through the Bestrophin 1 anion channel
SOX9 (show SOX9 Proteins), through interaction with microphthalmia-associated transcription factor (MITF (show MITF Proteins)) and OTX2 (show OTX2 Proteins), regulates BEST1 expression in the retinal pigment epithelium.
Bestrophin-1 knock-down increases phagocytosis in primary porcine RPE (show RPE Proteins) cells.
Retinal pigment epithelium bestrophin-1 possibly conducts Cl(-) as counter ion for Ca(2 (show CA2 Proteins)+) uptake into cytosolic Ca(2 (show CA2 Proteins)+) stores.
examined the quaternary structure of native best-1 and found that it migrates as a single species with a Stokes radius of 7.3 nm, sedimentation coefficient (S20 (show RPS20 Proteins),w) of 4.9, and partial specific volume (nu) of 0.80 ml/g
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.
, bestrophin 1
, Bestrophin 1
, Best disease
, vitelliform macular dystrophy protein 2
, best macular dystrophy
, vitelliform macular dystrophy 2 homolog
, vitelliform macular dystrophy protein 2 homolog
, vitelliform macular dystrophy (Best disease, bestrophin)