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The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliterationof the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause ofhypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primaryrenal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocularabnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Twotranscript variants encoding distinct isoforms have been identified for this gene. (provided by RefSeq)
