Gene Symbol | OCLN |
Entrez Gene ID | 100506658 |
Full Name | occludin |
Synonyms | BLCPMG,PPP1R115,PTORCH1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Pseudo-TORCH syndrome 1, 251290 (3) |