OCLN Polyclonal Antibody, 20ul Drying & Desiccation The encoded protein also plays

The encoded protein also plays a role in eye

The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators

Interacts with the huntingtin exon 1 protein (HDEX1P) containing a glutamine repeat in the pathological range and promotes formation of insoluble polyglutamine-containing aggregates in vivo

There are eight members in this superfamily

Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN)

OCLN Polyclonal Antibody, 20ul Drying & Desiccation The encoded protein also playsThis 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