Ataxin 3 mapped on chromosome 14q21 with the base pairs 92,058,551- 92,106,620 and cleaves the ubiquitin from unwanted proteins prior to the degradation so that the ubiquitin can be used again. It is also involved in regulating the first stage of protein production and linked to cell death in the part of the brain that is connected to the spinal cord as well as the death of neurons in the spinal cord.
Ataxin 3 gene mutation is associated with spinocerebellar ataxia type 3, a condition distinguished by progressive problems in movement in which the mutation increases the length of the repeated CAG segment in the gene having more than 50 CAG repeats leads to the assembly of an abnormally long version of ataxin-3 proteins that folds into the wrong 3 dimensional shape and become non-functional that turns out to be incapable of removing ubiquitin from protein that is no longer needed. As a consequence these unwanted protein together with ubiquitin and ataxin-3 formed into clumps within the nucleus of the cells.
Gene name: ATXN3
Protein name: Ataxin-3
• MJD GENE