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spinocerebellar ataxia type 2
Summary
- Definition
- An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050955
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60760 | Hematopoietic prostaglandin D synthase | |
| P04040 | Catalase | |
| Q6P1J6 | Phospholipase B1, membrane-associated | |
| Q9NYP7 | Very long chain fatty acid elongase 5 |
