Disease:Defects in CLDN1 are the cause of ichthyosis-sclerosing cholangitis neonatal syndrome (NISCH) [MIM:607626]; also called ichthyosis with leukocyte vacuoles alopecia and sclerosing cholangitis (ILVASC) . NISCH is a rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis , scarring alopecia , vulgar type ichthyosis , and sclerosing cholangitis. ,Function:Plays a major role in tight junction-specific obliteration of the intercellular space , through calcium-independent cell-adhesion activity (By similarity) . Acts as a co-receptor for HCV entry into hepatic cells. ,similarity:Belongs to the claudin family. ,subunit:Can form homo- and heteropolymers with other CLDN. Homopolymers interact with CLDN3 , but not CLDN2 , homopolymers. Directly interacts with TJP1/ZO-1 , TJP2/ZO-2 and TJP3/ZO-3. Interacts with MPDZ and INADL (By similarity) . May interact with HCV E1 and E2 proteins. ,tissue specificity:Strongly expressed in liver and kidney. Expressed in heart , brain , spleen , lung and testis. ,
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