Product Name
Bestrophin (BEST1), Monoclonal Antibody
Full Product Name
Bestrophin (BEST, Best Macular Dystrophy, BMD, Vitelliform Macular Dystrophy, VMD2)
Product Synonym Names
Anti -Bestrophin (BEST, Best Macular Dystrophy, BMD, Vitelliform Macular Dystrophy, VMD2)
Product Gene Name
anti-BEST1 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Chromosome Location
chromosome: 11; Location: 11q13
3D Structure
ModBase 3D Structure for O76090
Species Reactivity
Human, Monkey, Porcine
Specificity
Species Crossreactivity: Recognizes human, porcine, and monkey. This antibody does not work in rat. Other species have not been tested.
Purity/Purification
Ascites
Form/Format
Supplied as a liquid (ascites) containing 0.01% sodium azide
Immunogen
Partial recombinant protein [KDHMDPYWALENRDEAHS].
Positive Control
Pig RPE (Retinal Pigment Epithelium) whole cell extract
Preparation and Storage
May be stored at 4 degree C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and store at -20 degree C. Aliquots are stable for at least 12 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.
Other Notes
Small volumes of anti-BEST1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-BEST1 antibody
Best macular dystrophy (BMD) or vitelliform macular dystrophy (VMD2), is an autosomal form of macular degeneration, characterized by a depressed light peak in the electrooculogram (EOG). It is inherited and has an early onset. Bestrophin is a 68kD basolateral plasma membrane protein encoded by the VMD2 gene. Bestrophin's function is still unknown, but data suggests that it is a chloride channel that plays a role in generating the altered EOG in Best disease patients. In addition, Bestrophin is a useful biochemical and histological marker of RPE (retinal pigment epithelial cells) cells.
Product Categories/Family for anti-BEST1 antibody
Antibodies; Abs to Disease Markers
Applications Tested/Suitable for anti-BEST1 antibody
Western Blot (WB), Immunofluorescence (IF)
Application Notes for anti-BEST1 antibody
Suitable for use in Immunofluorescence and Western Blot.
NCBI/Uniprot data below describe general gene information for BEST1. It may not necessarily be applicable to this product.
UniProt Primary Accession #
O76090
[Other Products]
UniProt Secondary Accession #
O75904; Q53YQ9; Q8IUR9; Q8IZ80; A8K0W6; B7Z3J8; B7Z736[Other Products]
UniProt Related Accession #
O76090; Q59FK9[Other Products]
Molecular Weight
67,684 Da[Similar Products]
NCBI Official Full Name
bestrophin
NCBI Official Synonym Full Names
bestrophin 1
NCBI Official Symbol
BEST1??[Similar Products]
NCBI Official Synonym Symbols
ARB; BMD; BEST; RP50; VMD2; TU15B; BEST1
??[Similar Products]
NCBI Protein Information
bestrophin-1; Best disease; vitelliform macular dystrophy protein 2
UniProt Protein Name
Bestrophin-1
UniProt Synonym Protein Names
TU15B; Vitelliform macular dystrophy protein 2
Protein Family
Bestrophin
UniProt Gene Name
BEST1??[Similar Products]
UniProt Synonym Gene Names
VMD2??[Similar Products]
UniProt Entry Name
BEST1_HUMAN
NCBI Summary for BEST1
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 *****-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.
UniProt Comments for BEST1
BEST1: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. Defects in BEST1 are the cause of vitelliform macular dystrophy type 2 (VMD2); 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). 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 *****-onset vitelliform macular dystrophy (AVMD). 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). 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). A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable and may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. Belongs to the bestrophin family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Transporter; Membrane protein, multi-pass; Transporter, ion channel; Channel, chloride
Chromosomal Location of Human Ortholog: 11q13
Cellular Component: membrane; basolateral plasma membrane; plasma membrane; integral to membrane; cytosol
Molecular Function: chloride channel activity
Biological Process: visual perception; transepithelial chloride transport; detection of light stimulus involved in visual perception; chloride transport; regulation of calcium ion transport; transmembrane transport
Disease: Macular Dystrophy, Vitelliform, 2; Vitreoretinochoroidopathy; Retinitis Pigmentosa 50; Bestrophinopathy, Autosomal Recessive
Research Articles on BEST1
1. Data demonstrate that bestrophin 1 is localized in the endoplasmic reticulum (ER), where it interacts with the ER-Ca(2+) sensor and can enhance Ca(2+) signaling and activation of Ca(2+)-dependent Cl(-) (TMEM16A) and K(+) (SK4) channels.
2. BEST1 mutations were not correlated with the severity of the functional and clinical data in the Best vitelliform macular dystrophy patients examined.
3. This study describes a novel autosomal dominant vitreoretinochoroidopathy (ADVIRC) BEST1 mutation and shows that it disrupts an exonic splice enhancer (ESE) site, altering the binding of a splicing-associated SR protein.
4. Missense mutations in a retinal pigment protein, BEST1, cause retinitis pigmentosa.
5. Our results support a model in which ceramide accumulation during early stages of retinopathy inhibits hBest1 function, leading to abnormal fluid transport across the retina, and enhanced inflammation.
6. BEST1 may form the Ca2+-activated Cl(-) current, or it may be a component of a Cl(-) channel complex in epithelial tissues.
7. Results provide evidence that the bestrophins are expressed in pancreatic duct cells and, more specifically, that hBest1 plays a role in the calcium activated chloride channels found in these cells.
8. hBest1 functions as a multimer in the plasma membrane, and disruption of the N-C interaction by mutations leads to hBest1 channel dysfunction
9. A broad phenotypic variability may be observed in Best vitelliform macular dystrophy (BVMD), even with a single BEST1 mutation.
10. Patients with the Glu292Lys variation in BEST1 exhibit intrafamilial and interfamilial phenotypic variability.
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