Full name: |
Occludin |
Synonyms: |
BLCPMG |
Swissprot: |
Q16625 |
Gene Accession: |
BC029886 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
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. |