Search for a gene
ATXN3 - ataxin 3
- Synonym(s) : ATX3, JOS
- Previous symbols and names : MJD, Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3), SCA3
- Type : gene with protein product
- Chromosomal location : 14q32.12
- OMIM: 607047
- HGNC: 7106
- UniProtKB: P54252
- Genatlas: ATXN3
- GenCC: ATXN3
- Ensembl: ENSG00000066427
- IUPHAR-DB: -
- Reactome: P54252
- LOVD: ATXN3
Diseases list
- Disease-causing germline mutation(s) in Machado-Joseph disease type 1
ORPHA:276238 
- Disease-causing germline mutation(s) in Machado-Joseph disease type 2
ORPHA:276241 - Disease-causing germline mutation(s) in Machado-Joseph disease type 3
ORPHA:276244
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.