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OCLN / Occludin is 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 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.
Gene Name: | occludin |
Synonyms: | OCLN, Occludin, BLCPMG |
Target Sequences: | NM_002538 NP_002529.1 Q16625 |
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