About: TTN wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • TTN wt Allele
equivalentClass
OMIM_Number
  • 188840
GenBank_Accession_Number
  • X90568
Semantic_Type
  • Gene or Genome
Preferred_Name
  • TTN wt Allele
NCI_META_CUI
  • CL435942
EntrezGene_ID
  • 7273
HGNC_ID
  • HGNC:12403
FULL_SYN
  • Cardiomyopathy, Dilated 1G (Autosomal Dominant) GeneSYNCI
  • DKFZp451N061SYNCI
  • TTN wt AllelePTNCI
  • TMDSYNCI
  • Titin wt AlleleSYNCI
  • CMH9SYNCI
  • CMD1GSYNCI
  • CMPD4SYNCI
  • EOMFCSYNCI
  • HMERFSYNCI
  • MYLK5SYNCI
  • LGMD2JSYNCI
  • FLJ32040SYNCI
  • FLJ26020SYNCI
  • FLJ34413SYNCI
  • FLJ43066SYNCI
  • FLJ26409SYNCI
  • FLJ39564SYNCI
DEFINITION
  • Human TTN wild-type allele is located in the vicinity of 2q31 and is approximately 305 kb in length. This allele, which encodes titin protein, is involved in both muscle filament structure and protein phosphorylation. Mutation of the gene is associated with hereditary myopathy with early respiratory failure, familial hypertrophic cardiomyopathy type 9, cardiomyopathy dilated type 1G, tardive tibial muscular dystrophy, limb-girdle muscular dystrophy type 2J and early-onset myopathy with fatal cardiomyopathy.NCI
code
  • C101757
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