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. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include ubiquitin-specific protease activity and omega peptidase activity. An important paralog of this gene is ATXN3.
UniProtKB/Swiss-Prot for ATXN3L Gene
Deubiquitinating enzyme that cleaves both Lys-48-linked and Lys-63-linked poly-ubiquitin chains (in vitro)