| Gene Symbol | OCLN |
| Entrez Gene ID | 100506658 |
| Full Name | occludin |
| Synonyms | BLCPMG,PPP1R115,PTORCH1 |
| General protein information |
|
| 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) |

User Manual