Specifications
Immunogen
Full length native Prealbumin (purified from plasma) (Human).
Target
Alternative Names
TTR; transthyretin; PALB,prealbumin, amyloidosis type I; HsT2651; Amyloid polyneuropathy; Amyloidosis I; ATTR; Dysprealbuminemic euthyroidal hyperthyroxinemia; Dystransthyretinemic hyperthyroxinemia; HsT2651; PALB; Prealbumin amyloidosis type I; Prealbumi
Product Background
Antigen Description
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.
Pathway
Amyloids, organism-specific biosystem; FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem;
Citations
Publication ()
Have you cited CPBT-43973RH in a publication?
Let us know and earn a reward for your research.