Description |
Native Human Transthyretin (TTR). Transthyretin is one of 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 name Transthyretin was derived from the words transports thyroxine and retinol. Thranthyretin was originally called Prealbumin because it ran faster than albumins on electrophoresis gels. 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, and carpal tunnel syndrome. |