External Ids for CLDN19 Gene
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. [provided by RefSeq, Jun 2010]
GeneCards Summary for CLDN19 Gene
CLDN19 (Claudin 19) is a Protein Coding gene. Diseases associated with CLDN19 include chorioretinal scar and familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement. Among its related pathways are Integrin Pathway and Cell junction organization. GO annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN9.
UniProtKB/Swiss-Prot for CLDN19 Gene
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.