NCBI Summary:
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 13-36 to 68-79 is the cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Transcript variants encoding different isoforms (not involving the (CAG)n repeats) and utilizing alternative polyA_sites have been described for this gene.
General function
Enzyme, Hydrolase, Nucleic acid binding, DNA binding, Transcription factor
Comment
Cellular localization
Cytoplasmic, Nuclear
Comment
Ovarian function
Oogenesis, Oocyte maturation
Comment
Gene whose expression is detected by cDNA array hybridization: transcription factors, cell signaling and extracellular communication. Also, relative transcript level reproducibly decreases during IVM Rozenn Dalbis-Tran and Pascal Mermilloda