Aliases for TTR Gene
External Ids for TTR Gene
Previous HGNC Symbols for TTR Gene
Previous GeneCards Identifiers for TTR Gene
This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
GeneCards Summary for TTR Gene
TTR (Transthyretin) is a Protein Coding gene. Diseases associated with TTR include Amyloidosis, Hereditary, Transthyretin-Related and Hyperthyroxinemia, Dystransthyretinemic. Among its related pathways are Signaling by GPCR and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include identical protein binding and hormone activity. An important paralog of this gene is URAD.
UniProtKB/Swiss-Prot Summary for TTR Gene
Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.