本公司经销Bestrophin，卵黄状黄斑病蛋白抗体，克隆类型为polyclonal，宿主来源是Rabbit，Bestrophin卵黄状黄斑病蛋白抗体可应用于WB、elisa、IP、IF、IHC等实验，欢迎垂询订购！

货号：BY-11040R
英文名称：Anti-Bestrophin
中文名称：卵黄状黄斑病蛋白抗体
其他名称：BEST 1; BEST1; BEST-1; BEST; Best macular dystrophy; BEST1; BEST1_HUMAN; Bestrophin 1; Bestrophin-1; Bestrophin1; BMD; mBest1; TU15B; Vitelliform macular dystrophy 2; Vitelliform macular dystrophy; Vitelliform macular dystrophy protein 2; VMD 2; VMD2.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 64kDa
纯化方法：affinity purified by Protein A
交叉反应：hu, mo, rat, hrs, pig, dog, cow, Rb
产品介绍：Best vitelliform macular dystrophy, known as Best disease, is an early-onset autosomal dominant condition in which accumulation of lipofuscin-like material within ａnd beneath the RPE leads to progressive loss of central vision. Best disease is frequently a reflection of mutations in the Bestrophin gene, which encodes a protein containing four putative transmembrane domains ａnd localizes to the basolateral plasma membrane of RPE cells. Human Bestrophin forms oligomeric chloride channels that are sensitive to intracellular calcium. Missense mutations at the Bestrophin locus reduces or abolishes Bestrophin protein mediated membrane current. Bestrophin Bestrophin 2,Bestrophin 3, ａnd Bestrophin 4 are transmembrane proteins that contain a high percentage of aromatic residues, a conserved RFP （Arg-Phe-Pro） motif ａnd they function as anion channels.Function : Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.Subunit : Tetramer or pentamers. May interact with PPP2CB ａnd PPP2R1B.Subcellular Location : Cell membrane. Basolateral cell membrane.Tissue Specificity : Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.Post-translational modifications : Phosphorylated by PP2A.DISEASE : 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.Similarity : Belongs to the bestrophin family.