antibody

Bestrophin Antibody BIOTIN-Conjugated

MBS541049

0.1 mg

495 USD

polyclonal

rabbit

biotin

western blot, ELISA, immunohistochemistry, immunocytochemistry, immunoprecipitation, enzyme immunoassay

Antibody

Bestrophin Antibody BIOTIN-Conjugated

[Bestrophin]

[ARB; BEST 1; BEST; Best disease; BEST1; Bestrophin1; BMD; mBest1; RP50; TU15B; Vitelliform macular dystrophy 2; VMD2 antibody]

[bestrophin-1 isoform 1; Bestrophin-1; bestrophin-1; bestrophin 1; TU15B; Vitelliform macular dystrophy protein 2]

[BEST1; BEST1; ARB; BMD; BEST; RP50; VMD2; TU15B; VMD2]

BEST1_HUMAN

Polyclonal

Rabbit

Human

585

Affinity purified immunoglobulins

Store at -20°C for long term storage.

Confocal Microscopy (CM), ELISA (EIA), Immunofluorescence (IF), Immunohistochemistry (IHC), Immunoprecipitation (IP), Western Blot (WB)

Confocal Microscopy 1:100. Dot Blot: 1:10,000. ELISA: 1:10,000. Immunocytochemistry: 1:100. Immunofluorescence: 1:100. Immunohistochemistry: 1:100. Immunoprecipitation: 1:200. Western Blot: 1:500

Immunoglobulin & Concentration: 0.69 mg/ml IgG in antibody stabilization buffer. Immunogen: Synthetic peptide taken within amino acid region 500-585 on human Bestrophin-1 isoform 1 protein.

Determinant: N-epitope. Molecular Function: Ion transport; Sensory transduction; Transport; Vision. Structure: Tetramer or pentamers. Subcellular Location: Cell membrane; Multi-pass membrane protein; Basolateral cell membrane

BIOTIN-Conjugated Bestrophin 1 Antibody N-epitope. Forms calcium sensitive chloride channels. Highly permeable to bicarbonate. Bestrophin is a 68 kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). Bestrophin is encoded by the VMD2 gene, which is mutated in BEST macular dystrophy, a disease characterized by a depressed light peak due to alteration in the chloride channel activity and changes in the electroculogram (EOG). Recently it was proposed that bestrophin is chloride channel responsible for generating the light peak. It has been shown that Bestrophin interacts with beta catalytic subunit of protein phosphatase 2A (PP2Ac). Such Protein interaction between bestrophin and PP2AC ant the structural subunit of PP2A, PR65 was confirmed by reciprocal immunoprecipitation. The interaction between PP2Ac and the Bestrophin takes place near the Carboxy-terminal end of the protein. Okadic acid induces the phosphorylation of Bestrophin in vitro. Bestrophin also serves in the signal Okadic acid induces the phosphorylation of Bestrophin in virtro. Bestrophin also serves in the signal transduction pathway that modulates the light peak of the EOG, that is regulated by phosphorylation of Bestrophin that in turn is regulated by protein phosphatase 2A (PP2A). The Anti- Bestrophin- selective antibodies were generated against observed sequences near the N-terminal, mid region or the C-terminal end of the proteins that are unique to Bestrophin protein. The Bestrophin-selective antibodies were affinity purified against inmobilized antigen based affinity chromatography and are represented as epitope-specific antibodies. Antigenic blocking peptides (P-BEST.3) and western blot positive control (PC-BEST) in ready to use SDS-sample buffer are available. The polyclonal antibody strongly labels a 65 kDa protein in RPE cell extracts.

4759310

NP_004174.1

NM_004183.3

O76090

Ion Channel Transport Pathway (1269950); Stimuli-sensing Channels Pathway (1269953); Transmembrane Transport Of Small Molecules Pathway (1269903)

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.[provided by RefSeq, Nov 2008]

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 adult-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: Channel, chloride; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel. Chromosomal Location of Human Ortholog: 11q13. Cellular Component: basolateral plasma membrane; cytosol; integral to membrane; integral to plasma membrane; membrane; plasma membrane. Molecular Function: bicarbonate transmembrane transporter activity; chloride channel activity; intracellular calcium activated chloride channel activity. Biological Process: bicarbonate transport; chloride transport; detection of light stimulus involved in visual perception; regulation of calcium ion transport; transepithelial chloride transport; visual perception. Disease: Bestrophinopathy, Autosomal Recessive; Macular Dystrophy, Vitelliform, 2; Retinitis Pigmentosa 50; Vitreoretinochoroidopathy

0.1 mg

495 USD