Aliases for TTR Gene
External Ids for TTR Gene
Previous HGNC Symbols for TTR Gene
Previous GeneCards Identifiers for TTR Gene
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, Jan 2009]
GeneCards Summary for TTR Gene
TTR (Transthyretin) is a Protein Coding gene. Diseases associated with TTR include amyloidosis, hereditary, transthyretin-related and carpal tunnel syndrome, familial. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include identical protein binding and hormone activity.
UniProtKB/Swiss-Prot for TTR Gene
Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.