OCLN, Official Symbol OCLNprovided by HGNC Official Full Name occludinprovided by HGNC Primary source HGNC:HGNC:8104 See related Ensembl:ENSG00000197822 MIM:602876; AllianceGenome:HGNC:8104 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BLCPMG; PTORCH1; PPP1R115 Summary 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] Expression Broad expression in thyroid (RPKM 16.6), lung (RPKM 10.9) and 18 other tissues See more Orthologs mouse all