ATXN17 (also known as Ataxin-17) is a gene located on chromosome 6p21.1 that has been studied in the context of spinocerebellar ataxia type 17 (SCA17)[1]. While originally thought to be the disease-causing gene, subsequent research has established that SCA17 is actually caused by CAG trinucleotide repeat expansions in the TBP (TATA-binding protein) gene, which is located in the same genomic region[2].
| Property | Value |
|---|---|
| Gene Symbol | ATXN17 |
| Full Name | Ataxin-17 |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 80022 |
| OMIM ID | 607786 |
| Ensembl ID | ENSG00000204237 |
| UniProt ID | Q9UH73 |
| Associated Diseases | Spinocerebellar Ataxia Type 17 (via TBP) |
The nomenclature around ATXN17 is complex:
While ATXN17's specific biological functions are not well-characterized, it is understood to be part of the broader SCA17 genomic region:
The TBP gene encodes TATA-binding protein, a fundamental transcription factor:
SCA17 is caused by CAG trinucleotide repeat expansions in the TBP gene:
Nakamura et al. SCA17: Clinical and genetic study (2001). Neurology. 2001. ↩︎
Koide et al. TBP is the causative gene for SCA17 (1999). Nature Genetics. 1999. ↩︎
Fujigasaki et al. SCA17: Rapidly progressive dementia and ataxia (2001). Neurology. 2001. ↩︎
Schmitt et al. TBP and transcription regulation (2006). Cell. 2006. ↩︎
Gomez et al. SCA17 clinical phenotype (2017). Handbook of Clinical Neurology. 2017. ↩︎
Løkkegaard et al. SCA17: A Danish cohort study (2016). Movement Disorders. 2016. ↩︎
Sutton et al. Polyglutamine diseases: Molecular mechanisms (2001). Current Opinion in Neurobiology. 2001. ↩︎