Rockville, MD/Seattle, WA ?May 11, 2010 ?OriGene and the Institute for Systems Biology (ISB), announce plans to create a proteotypic PeptideAtlas and develop an SRM/MRM mass spectrometry standard database for 5,000 human proteins (Press Release)
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].
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