ATXN3L Chromosome X
Ataxin 3 like
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What This Gene Does
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]
Gene Info
Gene Group
MJD deubiquinating enzymes
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000123594
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376072867 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762695522 | Health Risk | Conflicting classifications of pathogenicity | — |