CLDN5, AWAL, TMVCF, Claudin-5, Transmembrane protein deleted in VCFS, TMDVCF
This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2008],function:Plays a major role in tight junction-specific obliteration of the intercellular space.,similarity:Belongs to the claudin family.,subunit:Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with MPDZ.,
