Presku: | APL10491 |
Size: | 200ug |
Weight: | 42 |
Gene: | 4950 |
Target: | 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. |
Alternative names: | BLCPMG; FLJ08163; FLJ18079; FLJ77961; FLJ94056; MGC34277; OCLN |