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Gene : ATXN3 Homo sapiens

Name  ? ataxin 3 Cytological Location  14q32.12
Brief Description  ataxin 3
Description  Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
  • synonyms:
  • AT3,
  • ATXN3,
  • ATX3,
  • U64820,
  • Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3),
  • HGNC:7106,
  • MJD,
  • MJD,
  • ATX3,
  • JOS,
  • MJD1,
  • SCA3,
  • uc001yac.5,
  • NM_004993,
  • OTTHUMG00000162212,
  • JOS,
  • SCA3
  • identifiers:
  • 4287,
  • ENSG00000066427,
  • ATXN3

Genome feature

Region: gene ? Length: 48070  
Location: 14:92058552-92106621 reverse strand Cyto location: 14q32.12


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Disease

1 Diseases

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3756 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results