disease:Defects in CLDN19 are the cause of hypomagnesemia renal with ocular involvement (HOMGO) [MIM:248190]. 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. The renal phenotype is virtually undistinguishable from that of patients with HOMG3 with proven CLDN16 mutations.,function:Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.,similarity:Belongs to the claudin family.,
Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
Kidney,Lung,Spleen,
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