其他名称： Bestrophin-1 (TU15B;Vitelliform macular dystrophy protein 2)
实测条带： 67kD
功能： 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.,
其他名称： Bestrophin-1 (TU15B;Vitelliform macular dystrophy protein 2)
实测条带： 67kD
功能： 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.,
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