BD-PN5662

Bestrophin-1 Rabbit Polyclonal Antibody

Bestrophin-1 (TU15B;Vitelliform macular dystrophy protein 2)

常规抗体

BEST1

Bestrophin-1 (TU15B) (Vitelliform macular dystrophy protein 2)

WB

Human,Rat,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.

7439

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7439

O76090

http://www.uniprot.org/uniprotkb/O76090/entry

O88870

http://www.uniprot.org/uniprot/O88870

Synthetic Peptide of Bestrophin-1 AA range: 161-211

The antibody detects endogenous Bestrophin-1 protein

WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200

67kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

Cell membrane ; Multi-pass membrane protein . Basolateral cell membrane .

disease:Defects in BEST1 are a cause of adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]. 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.,disease:Defects in BEST1 are the cause of autosomal recessive bestrophinopathy (ARB) [MIM:611809]. ARB is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram.,disease:Defects in BEST1 are the cause of vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]; 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.,disease:Defects in BEST1 may be a cause of bull's eye maculopathy [MIM:153870].,disease:Defects in BEST1 may be a cause of concentric annular macular dystrophy (MCDCA) [MIM:153870]; also known as bull's eye maculopathy.,function:Forms calcium-sensitive chloride channels. May conduct other physiologically significant anions such as bicarbonate.,online information:Retina International's Scientific Newsletter,PTM:Phosphorylated by PP2A.,similarity:Belongs to the bestrophin family.,subunit:Tetramer or pentamers. May interact with PPP2CB and PPP2R1B.,tissue specificity:Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.