Description
Product Characteristics: The defined antibody specificity is directed to transthyretin as tested against human sera. In immuno- electrophoresis and double radial immunodiffusion (Ouchterlony), using various antiserum concentrations against appropriate concentrations of the immunogen, a single characteristic precipitin line is obtained which shows a reaction of identity with the precipitin lines obtained against human serum and the purified transthyretin.
Target Information: This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein\, it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported\, most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009]