| Species : |
Human |
| Tag : |
Non |
| 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. |
| Tissue specificity : |
Detected in serum and cerebrospinal fluid (at protein level). Highly expressed in choroid plexus epithelial cells. Detected in retina pigment epithelium and liver. |
| Form : |
Liquid |
| Purity : |
>90% by SDS-PAGE |
| Storage buffer : |
Preservative: NoneConstituents: 30% Glycerol, 0.5% Triton-X-100, 50mM HEPES, 30mM Glutathione, 100mM Sodium chloride, 1mM DTT, pH 7.5 |
| Storage : |
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles. |
| Sequences of amino acids : |
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAV RGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGL TTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE |
| Sequence Similarities : |
Belongs to the transthyretin family. |
| Full Length : |
Full L. |