ATX3L_HUMAN, ATXN3L, Machado-Joseph disease protein 1-like, MJDL, Putative ataxin-3-like protein.
Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) , also known as Machado-Joseph disease (MJD). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordinat