Aliases for ATXN3L Gene
External Ids for ATXN3L Gene
Previous GeneCards Identifiers for ATXN3L Gene
This intronless gene may be a pseudogene (PMID:11450850). This gene 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. [provided by RefSeq, Sep 2011]
GeneCards Summary for ATXN3L Gene
ATXN3L (Ataxin 3 Like) is a Protein Coding gene. Diseases associated with ATXN3L include Machado-Joseph Disease and Simpson-Golabi-Behmel Syndrome, Type 2. Among its related pathways are Spinocerebellar ataxia and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and obsolete ubiquitin thiolesterase activity. An important paralog of this gene is ATXN3.
UniProtKB/Swiss-Prot Summary for ATXN3L Gene
Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (in vitro).