ATXN3 Chromosome 14
Ataxin 3
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What This Gene Does
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
MJD deubiquinating enzymes
Locus Type
gene with protein product
Location
14q32.12
Ensembl
ENSG00000066427
Associated Conditions (4)
ATXN3-related disorder
Azorean disease
Parkinson disease
late-onset
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555397062 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763461489 | Health Risk | Conflicting classifications of pathogenicity | ATXN3-related disorder, Azorean disease, ATXN3-related disorder |
| RS193922928 | Health Risk | Pathogenic; risk factor | Azorean disease, Parkinson disease, late-onset |