This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with an simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5.
Stoccaggio: Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80℃. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at < -20℃ for 3 months.
Simbolo target: OCLN
Ig target: BLCPMG;FLJ08163;FLJ18079;FLJ77961;FLJ94056;MGC34277;Occludin;Ocln;OCLN;Phosphatase 1 regulatory subunit 115;PPP1R115;PTORCH1;Tight junction protein occludin
Area di ricerca:Cancer;Signal Transduction
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