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 Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview and Development Slit-Robo signaling. 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.
(Microbial infection) Acts as a co-receptor for hepatitis C virus (HCV) in hepatocytes.