CLDN2

CLDN2

A gene on chromosome Xq22.3-q23 that encodes claudin-2, an integral membrane protein of the claudin family, which form part of tight junction strands, providing a continuous seal around cells and serving as a physical barrier to prevent solutes and water from passing freely into the interstitial space. Claudins play critical roles in maintaining cell polarity and signal transduction. Claudin-2 is expressed in the intestine.
References in periodicals archive ?
LaRusch et al., "Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis," Nature Genetics, vol.
Alcohol is an established environmental risk factor for pancreatitis, however, with advancements in genetic research we've learned that the gene CLDN2 plays a key role in increasing the risk for alcohol-related pancreatitis.
Whitcomb and colleagues (2012) identified an association between genetic variants of Claudin-2 (CLDN2) and the risk of alcoholic pancreatitis.
Krasinskas et al., "Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis," Nature, vol.
Mutations, upregulation, and genetic variants in several genes have been implicated in acute pancreatitis, namely, the trypsinogen gene (PRSS1) and trypsin inhibitor (SPINK1), cystic fibrosis transmembrane regulator (CFTR) variants, and endothelial ion/water channel CLDN2 risk allele [5].