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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^Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali SR et al. (Sep 1997). "Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome". Genomics42 (2): 245–51. doi:10.1006/geno.1997.4734. PMID9192844.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Kojima S, Rahner C, Peng S, Rizzolo LJ (2002). "Claudin 5 is transiently expressed during the development of the retinal pigment epithelium". J. Membr. Biol.186 (2): 81–8. doi:10.1007/s00232-001-0137-7. PMID11944085.