| SCA3 | |
|---|---|
| Full Name | ATXN3 (Ataxin-3) |
| Chromosomal Location | 14q32.1 |
| NCBI Gene ID | 6312 |
| OMIM | 607047 |
| UniProt ID | Q9UHD8 |
| Category | Polyglutamine Disease Protein |
The SCA3 gene encodes ATXN3 (Ataxin-3), a polyglutamine disease protein protein. It is involved in various cellular processes relevant to neurodegeneration.
ATXN3 (Ataxin-3) is a deubiquitinase enzyme that plays a role in protein quality control and transcriptional regulation. It contains a polyglutamine tract that, when expanded, causes Spinocerebellar Ataxia type 3 (SCA3), also known as Machado-Joseph Disease. The normal protein is involved in ubiquitin-dependent protein degradation, helping to clear misfolded proteins.
| Disease | Role in Disease |
|---|---|
| Spinocerebellar Ataxia Type 3 | CAG repeat expansion causes neurodegeneration of Purkinje cells and brainstem nuclei |
| Machado-Joseph Disease | Same disease as SCA3, the most common dominant ataxia worldwide |