{"symbol":"OCLN","synonyms":["PPP1R115","BLCPMG","PTORCH1"],"name":"occludin","description":"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]","ncbiEntrezGeneId":100506658,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/100506658","proteins":[{"symbol":"OCLN_HUMAN","href":"/api/1.0/protein/OCLN_HUMAN"}],"hgncRootFamilies":[{"name":"Protein phosphatase 1 regulatory subunits (PPP1R)","href":"/api/1.0/gene_family/Protein+phosphatase+1+regulatory+subunits+%28PPP1R%29"}]}