OCLN Polyclonal Antibody, 20ul Drying & Desiccation DefectsF8 results in hemophilia A

DefectsF8 results in hemophilia A

The encoded protein also plays a role in eye

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

and plays a role in the processing of several neuroendocrine peptides

OCLN Polyclonal Antibody, 20ul Drying & Desiccation DefectsF8 results in hemophilia AThis 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