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Immunoprecipitation

Enzyme-linked Immunoabsorbent Assay

Entrez GeneID

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