| SCA7 |
|---|
| Full Name | ATXN7 (Ataxin-7) |
| Chromosomal Location | 3p12 |
| NCBI Gene ID | 6314 |
| OMIM | 164500 |
| UniProt ID | Q9UQ50 |
| Category | Transcription Factor |
The SCA7 gene encodes ATXN7 (Ataxin-7), a transcription factor protein. It is involved in various cellular processes relevant to neurodegeneration.
ATXN7 (Ataxin-7) is a protein involved in transcriptional regulation through its role in the SAGA coactivator complex. It contains a polyglutamine tract that, when expanded, causes SCA7. The protein is involved in chromatin remodeling and gene expression regulation in neuronal tissues.
| Disease |
Role in Disease |
| Spinocerebellar Ataxia Type 7 |
CAG repeat expansion causes cerebellar and retinal degeneration |
| Visual Loss |
SCA7 uniquely causes progressive vision loss due to cone-rod dystrophy |
- David et al., Molecular analysis of SCA7. Hum Mol Genet. 1997
- Nieuwland et al., Ataxin-7 in transcription. Hum Mol Genet. 2009
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