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- NCIT_C192707 IAO_0000115 "Human ATXN3 wild-type allele is located in the vicinity of 14q32.12 and is approximately 62 kb in length. This allele, which encodes ataxin-3 protein, is involved in the regulation of protein homeostasis, gene transcription, cytoskeletal modeling, myogenesis and degradation of misfolded chaperone substrates. The expansion of (CAG)n trinucleotide repeats in the gene from the normal 12-44 to 52-86 is associated with spinocerebellar ataxia 3 (Machado-Joseph disease)." @default.
- NCIT_C192707 NCIT_NHC0 "C192707" @default.
- NCIT_C192707 NCIT_P100 "607047" @default.
- NCIT_C192707 NCIT_P102 "U64820" @default.
- NCIT_C192707 NCIT_P106 "Gene or Genome" @default.
- NCIT_C192707 NCIT_P108 "ATXN3 wt Allele" @default.
- NCIT_C192707 NCIT_P321 "4287" @default.
- NCIT_C192707 NCIT_R130 NCIT_C20633 @default.
- NCIT_C192707 NCIT_R130 NCIT_C39701 @default.
- NCIT_C192707 NCIT_R130 NCIT_C39737 @default.
- NCIT_C192707 NCIT_R37 NCIT_C118900 @default.
- NCIT_C192707 NCIT_R37 NCIT_C16702 @default.
- NCIT_C192707 NCIT_R37 NCIT_C16956 @default.
- NCIT_C192707 NCIT_R37 NCIT_C17019 @default.
- NCIT_C192707 NCIT_R37 NCIT_C17710 @default.
- NCIT_C192707 NCIT_R37 NCIT_C17828 @default.
- NCIT_C192707 NCIT_R37 NCIT_C18104 @default.
- NCIT_C192707 NCIT_R37 NCIT_C18105 @default.
- NCIT_C192707 NCIT_R37 NCIT_C19406 @default.
- NCIT_C192707 NCIT_R37 NCIT_C19536 @default.
- NCIT_C192707 NCIT_R37 NCIT_C19899 @default.
- NCIT_C192707 NCIT_R37 NCIT_C19903 @default.
- NCIT_C192707 NCIT_R37 NCIT_C19986 @default.
- NCIT_C192707 NCIT_R37 NCIT_C20140 @default.
- NCIT_C192707 NCIT_R37 NCIT_C21065 @default.
- NCIT_C192707 NCIT_R37 NCIT_C21067 @default.
- NCIT_C192707 NCIT_R37 NCIT_C21198 @default.
- NCIT_C192707 NCIT_R37 NCIT_C21243 @default.
- NCIT_C192707 NCIT_R37 NCIT_C21556 @default.
- NCIT_C192707 NCIT_R37 NCIT_C28498 @default.
- NCIT_C192707 NCIT_R37 NCIT_C61559 @default.
- NCIT_C192707 NCIT_R41 NCIT_C14182 @default.
- NCIT_C192707 NCIT_R41 NCIT_C14225 @default.
- NCIT_C192707 NCIT_R41 NCIT_C14234 @default.
- NCIT_C192707 NCIT_R41 NCIT_C14250 @default.
- NCIT_C192707 NCIT_R41 NCIT_C14262 @default.
- NCIT_C192707 NCIT_R41 NCIT_C14282 @default.
- NCIT_C192707 NCIT_R41 NCIT_C25796 @default.
- NCIT_C192707 NCIT_R41 NCIT_C79740 @default.
- NCIT_C192707 normalizedInformationContent "100" @default.
- NCIT_C192707 referenceCount "1" @default.
- NCIT_C192707 hasExactSynonym "AT3" @default.
- NCIT_C192707 hasExactSynonym "ATX3" @default.
- NCIT_C192707 hasExactSynonym "ATXN3 wt Allele" @default.
- NCIT_C192707 hasExactSynonym "Ataxin 3 wt Allele" @default.
- NCIT_C192707 hasExactSynonym "JOS" @default.
- NCIT_C192707 hasExactSynonym "Josephin Gene" @default.
- NCIT_C192707 hasExactSynonym "MJD" @default.
- NCIT_C192707 hasExactSynonym "MJD1" @default.
- NCIT_C192707 hasExactSynonym "Machado-Joseph Disease (Spinocerebellar Ataxia 3, Olivopontocerebellar Ataxia 3, Autosomal Dominant, Ataxin 3) Gene" @default.
- NCIT_C192707 hasExactSynonym "Olivopontocerebellar Ataxia 3 Gene" @default.
- NCIT_C192707 hasExactSynonym "SCA3" @default.
- NCIT_C192707 hasExactSynonym "Spinocerebellar Ataxia 3 Gene" @default.
- NCIT_C192707 hasExactSynonym "Spinocerebellar Ataxia Type 3 Gene" @default.
- NCIT_C192707 type Class @default.
- NCIT_C192707 isDefinedBy ncit.owl @default.
- NCIT_C192707 label "ATXN3 wt Allele" @default.
- NCIT_C192707 subClassOf B3f83331728064023f648e7bb1edcfa98 @default.
- NCIT_C192707 subClassOf Ba85a6a82adaef1210b6ca83d02c3c6bb @default.
- NCIT_C192707 subClassOf NCIT_C16612 @default.
- NCIT_C192707 subClassOf NCIT_C192706 @default.
- NCIT_C192707 subClassOf NCIT_C192707 @default.
- NCIT_C192707 subClassOf NCIT_C21281 @default.
- NCIT_C192707 subClassOf NCIT_C25804 @default.
- NCIT_C192707 subClassOf NCIT_C26003 @default.
- NCIT_C192707 subClassOf NCIT_C28404 @default.