Bestrophin, Polyclonal Antibody

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

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

FITC-Conjugated

0.65 ug/ul in antibody stabilization buffer (lot specific)

-20 degree C for long term storage

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.

FITC-Conjugated Bestrophin 1 Antibody Mid-Region
Forms calcium sensitive chloride channels. Highly permeable to bicarbonate.

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

57,349 Da[Similar Products]

bestrophin 1

bestrophin-1

Bestrophin-1

VMD2  [Similar Products]

BEST1_HUMAN

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.[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 *****-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, multi-pass; Transporter; Membrane protein, integral; Transporter, ion channel; Channel, chloride

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

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.