||Nucleus,Plasma Membrane,basolateral plasma membrane,Other locations:apical junction complex,bicellular tight junction,cytoplasm,integral component of membrane
||Store at -20℃. Avoid freeze / thaw cycles.
||PBS with 0.02% sodium azide,0.5% BSA and 50% glycerol pH 7.4.
||The product of this gene 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 this gene 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 this gene.