CLDN1

Claudin-1 ;
Senescence-associated epithelial membrane protein ;

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.,

regulation of action potential, cellular ion homeostasis, cell adhesion, ensheathment of neurons, axon ensheathment,cell-cell adhesion, calcium-independent cell-cell adhesion, transmission of nerve impulse, regulation of action potential in neuron, cellular homeostasis, biological adhesion, regulation of membrane potential, myelination, homeostatic process, chemical homeostasis, ion homeostasis, neurological system process, cellular chemical homeostasis,

Cell junction, tight junction . Cell membrane ; Multi-pass membrane protein . Basolateral cell membrane . Associates with CD81 and the CLDN1-CD81 complex localizes to the basolateral cell membrane. .

Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis.