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Description for Protein TTR

transthyretin
19 total interacting proteins; 10 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 6/1)
(alpha granules: 1; platelet: 4; secretome: 1; undefined: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Prealbumin, thyroxine binding; Prealbumin; TBPA; PALB; ATTR
    Approved Symbol:
    TTR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Amyloid cardiomyopathy(Pd);
  • Amyloid polyneuropathy(Pd);
  • Amyloid polyneuropathy, Andrade or Portuguese type(Pd);
  • Amyloid polyneuropathy, Appalachian type(Pd);
  • Amyloid polyneuropathy, German-American type(Pd);
  • Amyloid polyneuropathy, Jewish type(Pd);
  • Amyloid polyneuropathy, Mahloudji or Maryland type(Pd);
  • Amyloid polyneuropathy, Polish-American(Pd);
  • Amyloid polyneuropathy, Rukavina or Indiana type(Pd);
  • Amyloidosis, cardiac or Denmark type(Pd);
  • Amyloidosis, familial(Pd);
  • Amyloidosis, leptomeningeal(Pd);
  • Amyloidosis, oculoleptomeningeal(Pd);
  • Amyloidosis, Senile(Pd);
  • Amyloidosis, systemic, neuropathic, and leptomeningeal(Pd);
  • Carpal tunnel syndrome, familial(Pd);
  • Hyperthyroxinemia, familial dysprealbuminemic euthyroid(Pd);
  • Prealbumin Chicago(Pd);
  • Transthyretin acidic Asn-90 variant(Pd);
  • Transthyretin polymorphism(Pd);
  • Transthyretin Ser-6 polymorphism(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01447 Entrez Gene ID: 7276 OMIM ID: 176300 Swissprot Accession: P02766;