Products

Western Blot (Transfected lysate)

Immunofluorescence (Transfected cell)

Flow Cytometry (Transfected cell)

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

TTR

Gene Alias

HsT2651, PALB, TBPA

Gene Description

transthyretin

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

prealbumin, amyloidosis type I|thyroxine-binding prealbumin