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TTR transthyretin

Gene ID: 7276, updated on 26-Mar-2023
Gene type: protein coding
Also known as: CTS; TTN; ATTR; CTS1; PALB; TBPA; HEL111; HsT2651


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]

Associated conditions

See all available tests in GTR for this gene

Amyloidogenic transthyretin amyloidosisSee labs
Carpal tunnel syndrome 1
MedGen: C3468338OMIM: 115430GeneReviews: Not available
See labs
Genome-wide association study of circulating retinol levels.
GeneReviews: Not available
Hyperthyroxinemia, dystransthyretinemic
MedGen: C2750824OMIM: 145680GeneReviews: Not available
See labs

Genomic context

Chromosome: 18; NC_000018.10 (31591877..31598821)
Total number of exons:


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