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Gene : TTR Homo sapiens

Name  ? transthyretin Cytological Location  18q12.1
Brief Description  transthyretin
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 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]
  • synonyms:
  • HEL111,
  • prealbumin, amyloidosis type I,
  • ATTR,
  • TTR,
  • NM_000371,
  • PALB,
  • CTS,
  • CTS1,
  • PALB,
  • TBPA,
  • HGNC:12405,
  • CTS,
  • uc002kwx.5,
  • OTTHUMG00000131984,
  • carpal tunnel syndrome 1,
  • M10605,
  • CTS1,
  • HsT2651,
  • HsT2651
  • identifiers:
  • 7276,
  • ENSG00000118271,
  • TTR

Genome feature

Region: gene ? Length: 6945  
Location: 18:31591877-31598821 Cyto location: 18q12.1

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3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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22 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results