OCLN, EnkiLife, AMRe21373

Cell localization: Membrane. 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],