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.
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^ abCoyne, Carolyn B; Gambling Todd M; Boucher Richard C; Carson Johnny L; Johnson Larry G (Nov 2003). "Role of claudin interactions in airway tight junctional permeability". Am. J. Physiol. Lung Cell Mol. Physiol. (United States) 285 (5): L1166–78. doi:10.1152/ajplung.00182.2003. ISSN1040-0605. PMID12909588.
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