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spinocerebellar ataxia type 7
Summary
- Definition
- An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.
- Super Class
- autosomal dominant cerebellar ataxia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| Q13822 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 2 | |
| Q9NYP7 | Very long chain fatty acid elongase 5 |
