Ataxin 3 Like Protein (ATXN3L)

MJDL; Machado-Joseph Disease Protein 1-Like

Ataxin 3 Like Protein (ATXN3L)
ATXN3L is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease.
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.ATXN3 has deubiquitinase activity and appears to be a component of the ubiquitin proteasome system. It may also have roles in transcriptional regulation and neuroprotection.

Organism species: Homo sapiens (Human)