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.
Aliases： CTS; CTS1; PALB; TBPA; HEL111; HsT2651
Entrez GeneID： 7276
Swissprot : P02766
WB Predicted band size： 16kDa
Host/Isotype： Mouse IgG1
Species Reactivity： Human
Immunogen： Purified recombinant fragment of human TTR (AA: 1-147) expressed in E. Coli.
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