卵黄状黄斑病蛋白抗体

2015-01-29 10:45 下载量：0

资料摘要

资料下载

卵黄状黄斑病蛋白抗体 Background: 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. Also known as: 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.卵黄状黄斑病蛋白抗体

资料下载

文献贡献者

上海沪震生物科技有限公司

银牌会员 | 第11年

查看全部资料

资料中心更多