Gene: CLDN19

Alternate names for this Gene: HOMG5

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: claudin 19

Type of Gene: protein-coding

rs118203980 in CLDN19 gene and HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT PMID 17033971 2006 Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

rs145591298 in CLDN19 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs145591298 in CLDN19 gene and Nephrolithiasis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.