Gene Symbol

TTR

Aliases

ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA

Entrez Gene ID

7276

Gene Name

Transthyretin

Chromosomal Location

18q12.1

HGNC ID

HGNC:12405

Summary

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]

Function

Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.

P02766

PDB

1QAB, 1RLB, 2WQA, 3BSZ, 1BM7, 1BMZ, 1BZ8, 1BZD, 1BZE, 1DVQ, 1DVS, 1DVT, 1DVU, 1DVX, 1DVY, 1DVZ, 1E3F, 1E4H, 1E5A, 1ETA, 1ETB, 1F41, 1F64, 1F86, 1FH2, 1FHN, 1G1O, 1GKO, 1ICT, 1III, 1IIK, 1IJN, 1QWH, 1SOK, 1SOQ, 1THA, 1THC, 1TLM, 1TSH, 1TT6, 1TTA, 1TTB, 1TTC, 1TTR, 1TYR, 1TZ8, 1U21, 1X7S, 1X7T, 1Y1D, 1Z7J,

STRING	MINT	IntAct
ENSP00000324890	P10747	P10747