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)[@nakamura2001]. 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[@koide1999].
<div class="infobox infobox-gene">
| 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) |
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Nomenclature and Historical Context
The nomenclature around ATXN17 is complex:
ATXN17 was originally named based on its proximity to the SCA17 locus
The SCA17 disease is now known to be caused by expansions in the TBP gene (TATA-binding protein)
ATXN17 itself does not cause disease but is part of a complex genomic region
Some literature uses ATXN17 and TBP interchangeably in the context of SCA17[@fujigasaki2001]
Function
While ATXN17's specific biological functions are not well-characterized, it is understood to be part of the broader SCA17 genomic region:
TBP (The Actual Disease Gene)
The TBP gene encodes TATA-binding protein, a fundamental transcription factor:
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ATXN17
Overview
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)[@nakamura2001]. 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[@koide1999].
<div class="infobox infobox-gene">
| 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) |
</div>
Nomenclature and Historical Context
The nomenclature around ATXN17 is complex:
ATXN17 was originally named based on its proximity to the SCA17 locus
The SCA17 disease is now known to be caused by expansions in the TBP gene (TATA-binding protein)
ATXN17 itself does not cause disease but is part of a complex genomic region
Some literature uses ATXN17 and TBP interchangeably in the context of SCA17[@fujigasaki2001]
Function
While ATXN17's specific biological functions are not well-characterized, it is understood to be part of the broader SCA17 genomic region:
TBP (The Actual Disease Gene)
The TBP gene encodes TATA-binding protein, a fundamental transcription factor:
General transcription factor: TBP is a core component of the transcription factor IID (TFIID) complex
DNA binding: Binds to the TATA box promoter element
Gene expression: Central role in transcription initiation for RNA polymerase II
PolyQ toxicity: Expanded polyglutamine tracts in TBP cause toxic gain-of-function[@schmitt2006]
Disease Associations
Spinocerebellar Ataxia Type 17 (SCA17)
SCA17 is caused by CAG trinucleotide repeat expansions in the TBP gene: