Recombinant Human Bestrophin-1 (BEST1), partial

Code CSB-YP002666HU1
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Source Yeast
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Code CSB-EP002666HU1
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Source E.coli
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Code CSB-EP002666HU1-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP002666HU1
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Source Baculovirus
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Code CSB-MP002666HU1
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Source Mammalian cell
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Product Details

>85% (SDS-PAGE)
Target Names
Uniprot No.
Alternative Names
BEST1; VMD2; Bestrophin-1; TU15B; Vitelliform macular dystrophy protein 2
Homo sapiens (Human)
Protein Length
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Please contact us to get it.

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Target Background

Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.
Gene References into Functions
  1. hBest1's channel activity in human retinal pigment epithelium is significantly enhanced by adenosine triphosphate in a dose-dependent manner PMID: 30087350
  2. two recurrent genetic variations of BEST1 in two Chinese patients with either juvenile-onset BVMD or adult-onset BVMD were identified in this study. These findings expand the mutation spectrum of BEST1 and may aid in genetic counseling as well as prenatal diagnoses of patients with BVMD. PMID: 29115605
  3. These results revealed that the disease-causing mechanism of BEST1 mutations is centered on the indispensable role of BESTROPHIN1 in mediating the long speculated Ca(2+)-dependent Cl(-) current in retinal pigment epithelium. PMID: 29063836
  4. We describe a highly recognizable and reproducible retinal phenotype associated with a specific BEST1 mutation-p.Ala243Val in vitelliform macular dystrophy. PMID: 28225368
  5. We present a consanguineous family of five affected individuals with autosomal recessive bestrophinopathy and four confirmed carriers. Their pedigree was consistent with dominant inheritance and incomplete penetrance. PMID: 28481155
  6. 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. PMID: 26333019
  7. 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. PMID: 26771239
  8. 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. PMID: 28687848
  9. Mutation in BEST1 has variable penetrance and expressivity, and can be uniocular. PMID: 27287821
  10. We identified 7 BEST1 variants, 2 of which were new in 9 cases of Japanese patients with autosomal recessive bestrophinopathy. PMID: 27163236
  11. 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 (14), BEST1 (2), PRPH2 (1), and TIMP3 PMID: 28005406
  12. 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. PMID: 26807628
  13. 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. PMID: 26716959
  14. The secondary structure of Best1 and the effect of calcium have been described. PMID: 27768912
  15. BVMD could present with other ocular disorders such as ACG and FCE. 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) PMID: 27078032
  16. Two previously unreported disease-associated variants in the BEST1 gene (p.Gly15Arg and p.Arg105Gly) were found in Slovenian patients with Best disease. PMID: 27775230
  17. Nuclear spheres modulate the expression of BEST1 and GADD45G PMID: 26521045
  18. Progressive posterior chorioretinal changes occurred over time in the initial ADVIRC proband, leading to visual loss. The causative mutation in this patient falls in the transmembrane domain of the BEST1 protein, with unclear functional consequences. PMID: 26849243
  19. HEK293T cells transfected with the identified BEST1 mutant showed significantly small currents compared to those transfected with the wild-type gene, whereas cells cotransfected with mutant and wild-type BEST1 showed good chloride conductance PMID: 26720466
  20. Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells. PMID: 25941382
  21. We describe a novel mutation within the BEST1 gene of the heterozygous form giving rise to vitelliform lesions and secondary neovascularization successfully treated in a child with a course of bevacizumab. PMID: 25265375
  22. Dysfunction of bestrophin 1 may result in abnormal ion and fluid transport by the retinal pigment epithelium (RPE) disturbing and even disrupting direct interactions between the RPE and the photoreceptors. PMID: 24328569
  23. Two novel BEST1 mutations and associated clinical observations have been found in two unrelated patients with Best vitelliform macular dystrophy. PMID: 25936525
  24. Twelve different variants, two of which (p.S7N and p.P346H) were novel, were identified in the 13 Japanese families with Best's vitelliform macular dystrophy. PMID: 26201355
  25. Genetic sequence analysis of BEST1 is important in the diagnosis of Best vitelliform dystrophy, particularly in unusual cases, and helps to further our knowledge and understanding of this disease. PMID: 26099059
  26. Best1 I366fsX18 differs from Best1 in that it lacks most of the cytosolic C-terminal domain, suggesting that the loss of this region contributes significantly to the pathogenesis of ARB in this patient. PMID: 26200502
  27. Three novel BEST1 mutations are described, suggesting that many deleterious variants in BEST1 resulting in haploinsufficiency are still unknown. PMID: 25545482
  28. BEST1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium. PMID: 25878489
  29. The features and combinations of different BEST1 mutations as well as epistatic effects may influence phenotype expression in Chinese patients with bestrophinopathy. PMID: 25489231
  30. We describe the clinical and genetic characteristics of a young male diagnosed with autosomal recessive bestrophinopathy associated with angle-closure glaucoma resulting from a novel homozygous mutation in BEST1. PMID: 24859690
  31. Bestrophin-1 functions as an intracellular Cl channel which helps to accumulate and to release Ca(2+) from stores by conducting the counterion for Ca(2+). PMID: 24664688
  32. Our current and past results indicate that mislocalization of Best1 is not an absolute feature of any individual bestrophinopathy. PMID: 24560797
  33. 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. PMID: 23825107
  34. Best1V1 and Best1V1Deltaex2 formed Ca2+-activated Cl-channels, showing that the N-terminus is not essential for channel function. Best1V2-expressing cells had no detectable Ca2+-activated Cl-currents, pointing to a critical role for splicing of C-terminus. PMID: 24341532
  35. Because of a relatively well preserved retinal function, autosomal recessive bestrophinopathy may be a suitable first candidate, among the BEST1-related ocular conditions, for gene replacement therapy. PMID: 24345323
  36. Three basolateral sorting motifs might be implicated in proper Best1 basolateral localization. PMID: 23880862
  37. In a large consanguineous family, the cosegregation of p.C251Y with a coherent ocular phenotype in all 5 patients strongly suggests traits associated with BEST1 homozygous mutations: ARB, angle-closure glaucoma, hyperopia, and cataracts. PMID: 23823511
  38. Case Reports: siblings with missense mutation in BEST1 with retinoschisis and best vitelliform macular dystrophy. PMID: 23572118
  39. Autosomal recessive bestrophinopathy is a recognizable phenotype caused by autosomal recessively inherited mutations in the BEST1 gene. PMID: 23290749
  40. Ten variants in the BEST1 gene were detected in a group of Italian patients with clinically apparent vitelliform macular dystrophy. PMID: 23213274
  41. This case of unilateral vitelliform phenotype further supports the notion that autosomal recessive bestrophinopathy represents a disease spectrum in terms of severity, age at onset and heritability. PMID: 22584882
  42. Our data expand the mutation spectrum of BEST1 in patients with Best disease. Our frequency estimate confirms that Best disease is one of the most common causes of early macular degeneration. PMID: 22633354
  43. Two siblings with homozygous Arg141His mutation developed symptoms of typical Best vitelliform dystrophy while their parents had clinical features of mild maculopathy. PMID: 21809908
  44. Autosomal recessive Best vitelliform macular dystrophy can be caused by the compound heterozygous mutation L41P and I201T in the BEST1 gene. PMID: 22422030
  45. Molecular screening of the candidate genes BEST1 and PRPH2 revealed no mutations. PMID: 22174098
  46. report for the first time a phenotype-genotype correlation in a Czech patient with Best disease PMID: 22448417
  47. Biallelic BEST1 sequence variants can be associated with at least two different phenotypes: Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy. PMID: 22162627
  48. BEST1 regulated cell function in the cytosol by regulating calcium signaling. PMID: 22183384
  49. Bestrophinopathies are a group of inherited retinal disorders primarily caused by point mutations scattered throughout the BEST1 gene. PMID: 22183385
  50. In truncating BEST1 mutations, the null phenotype associated with ARB is attributed to a substantial decrease of BEST1 expression promoted by the nonsense-mediated decay (NMD) surveillance mechanism. PMID: 22199244

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Involvement in disease
Macular dystrophy, vitelliform, 2 (VMD2); Retinitis pigmentosa 50 (RP50); Bestrophinopathy, autosomal recessive (ARB); Vitreoretinochoroidopathy, autosomal dominant (ADVIRC)
Subcellular Location
Cell membrane; Multi-pass membrane protein. Basolateral cell membrane.
Protein Families
Bestrophin family
Tissue Specificity
Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
Database Links

HGNC: 12703

OMIM: 153700

KEGG: hsa:7439

STRING: 9606.ENSP00000399709

UniGene: Hs.524910

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