QuickView for TTR (gene)

Gene Symbol:

TTR Homo sapiens

Full name:

transthyretin

Synonyms:

ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA, transthyretin, epididymis luminal protein 111, prealbumin, amyloidosis type I, thyroxine-binding prealbumin

Genomic Location:

Chr 18: 27425838-27432781

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Bos taurus ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

HNF4ALPHA_Q6 ,  TTANTCA_UNKNOWN ,  FOX_Q2 ,  CAGTGTT_MIR141_MIR200A ,  PBX1_01 ,  HNF4_DR1_Q3 ,  CDP_01 ,  FOXO3_01 ,  FREAC3_01 ,  RFX1_02 ,  HNF3B_01 ,  TGCTGAY_UNKNOWN ,  YCATTAA_UNKNOWN ,  CART1_01 ,  TATA_01 ,  COUP_DR1_Q6 ,  RGTTAMWNATT_HNF1_01 ,  WCAANNNYCAG_UNKNOWN ,  HNF6_Q6

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-141

Cytogenetic Map:

18q12.1

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