About: TTR wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • TTR wt Allele
rdfs:subClassOf
OMIM_Number
  • 176300
GenBank_Accession_Number
  • M10605
Semantic_Type
  • Gene or Genome
Preferred_Name
  • TTR wt Allele
UMLS_CUI
  • C2699876
EntrezGene_ID
  • 7276
Legacy_Concept_Name
  • TTR_wt_Allele
HGNC_ID
  • HGNC:12405
FULL_SYN
  • Transthyretin wt AlleleSYNCI
  • TTR wt AllelePTNCI
  • Prealbumin, Amyloidosis Type I GeneSYNCI
  • PALBSYNCI
  • TBPASYNCI
  • HsT2651SYNCI
DEFINITION
  • Human TTR wild-type allele is located in the vicinity of 18q12.1 and is approximately 7 kb in length. This allele, which encodes transthyretin protein, plays a role in the stabilization and transport of thyroxine and retinol. Mutations in the gene are associated with hyperthyroxinemia and amyloidosis types 1 and 7.NCIUniProt
DesignNote
  • More than 80 different mutations in the TTR gene have been reported. Most mutations are related to amyloid deposition but a few mutations are non-amyloidogenic. The diseases associated with TTR gene mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome. (Entrez Gene)
code
  • C79963
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