The product of CLDN19 belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in CLDN19 are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for CLDN19.蛋白别名为:CLDN19; Claudin-19;基因ID为:149461;蛋白质ID:Q8N6F1
应用类型
WB,ELISA补充:最优的抗体稀释比例需要基于客户实验进行优化.建议的起始稀释比例如下: WB: 1:500-1:2000, ELISA: 1:10000. Not yet tested in other applications.
免疫原
合成多肽:the Internal region of human Claudin-19. at AA rangle: 50-130