Ataxin 3

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Ataxin-3 is a protein that in humans is encoded by the ATXN3 gene.[1][2]

Clinical significance

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ATXN3 gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is an inverse correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[2]

Interactions

Ataxin 3 has been shown to interact with:

Model organisms

Model organisms have been used in the study of ATXN3 function. A conditional knockout mouse line called Atxn3tm1a(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12] - in-depth bone and cartilage phenotyping[13]

References

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Further reading

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External links