Description
Product Characteristics:
May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.
Subcellular location: Cell membrane
Synonyms: Ocl, AI53564, Occludin, Ocln
Target Information: 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 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. [provided by RefSeq, Apr 2011]