CLDN19

A 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.
Molecular pathology
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).

单词	cldn19
释义	CLDN19 CLDN19 A 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. Molecular pathology 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).
随便看	nccy nccym nccypaa nccys nccz ncd ncd1 ncd2 ncda ncdaa ncdabc ncdacs ncdad ncdae ncdan ncdap ncdaq ncdar n-cdase ncdase ncdb ncdba ncdbw ncdc ncdca