Aliases for OCLN Gene
External Ids for OCLN Gene
Previous GeneCards Identifiers for OCLN Gene
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]
GeneCards Summary for OCLN Gene
OCLN (Occludin) is a Protein Coding gene. Diseases associated with OCLN include Pseudo-Torch Syndrome 1 and Torch Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Cell adhesion_Endothelial cell contacts by junctional mechanisms. Gene Ontology (GO) annotations related to this gene include structural molecule activity and S-adenosylmethionine-dependent methyltransferase activity. An important paralog of this gene is MARVELD2.
UniProtKB/Swiss-Prot Summary for OCLN Gene
May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions.