CLDN19 Antibody – Rabbit Polyclonal

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]

Claudin-19: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. Defects in CLDN19 are the cause of hypomagnesemia renal with ocular involvement (HOMG5). HOMG5 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. Belongs to the claudin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1p34.2

Cellular Component: apical junction complex; tight junction; basolateral plasma membrane; cytoplasm; integral to membrane; nucleus

Molecular Function: identical protein binding; structural molecule activity

Biological Process: apical junction assembly; visual perception; response to stimulus; action potential propagation; calcium-independent cell-cell adhesion

Disease: Hypomagnesemia 5, Renal, With Ocular Involvement