Ataxin 3

Clinical significance

Machado–Joseph disease, also known as spinocerebellar ataxia type 3, is an autosomal dominant neurologic disorder. The protein encoded by the ATXN3 gene contains CAG 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. This disorder is thus a trinucleotide repeat disorder type I known as a polyglutamine (PolyQ) 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.

Interactions

Ataxin 3 has been shown to interact with:

• RAD23A,
• RAD23B, and
• VCP.

References

References

1. (Jul 1993). "The gene for Machado-Joseph disease maps to human chromosome 14q". Nature Genetics.
2. "Entrez Gene: ATXN3 ataxin 3".
3. (Jul 2000). "Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B". Human Molecular Genetics.
4. (Sep 2003). "Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis". Molecular and Cellular Biology.
5. (Mar 2008). "Inhibition of p97-dependent protein degradation by Eeyarestatin I". The Journal of Biological Chemistry.