CLDN19(redirected from OTTHUMP00000008733)
CLDN19A gene on chromosome 1p34.2 that encodes claudin-19, an integral membrane protein of the claudin family, and which plays a key role in tight junction-specific obliteration of the intercellular space by means of a calcium-independent mechanism.
CLDN19 mutations cause hypomagnesaemia renal with ocular involvement (HOMGO), a progressive nephropathy characterised by renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis, and severe ocular defects (e.g., bilateral chorioretinal scars, macular colobomata, myopia and nystagmus).
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