Description
Product Characteristics: Transthyretin, PALB, HsT2651, prealbumin, amyloidosis type 1, ATTR, TBPA, CTS, CTS1, carpal tunnel syndrome 1, thyroxine-binding prealbumin, prealbumin, HEL111, TTR protein, Epididymis luminal protein 111, prealbumin thyroxine binding, senile systemic amyloidosis antibody,Transthyretin (Prealbumin)
Cellular localisation: Secreted. Cytoplasm.
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]