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. Author manuscript; available in PMC: 2015 Aug 11.
Published in final edited form as: Curr Opin Genet Dev. 2014 Aug 11;0:96–104. doi: 10.1016/j.gde.2014.06.008

Table 1.

Genes affected by polyglutamine expansion and the function of their protein products where known. In some cases repeat expansion affects more than one gene product.

Polyglutamine expansion diseases
Disease name Products of expanded gene Wild-type number of repeats (repeat sequence) Repeat expansion in disease Protein function
Huntington disease (HD) Huntingtin 6-34 (CAG) 36-121 Transcriptial repressor, membrane trafficking, endocytosis
Spinal and bulbar muscular atrophy (SBMA)/Kennedy's disease Androgen receptor 9-36 (CAG) 38-62 Nuclear receptor, Androgen response
Dentatorubral-pallidoluysian atrophy Atrophin 1 7-34 (CAG) 49-88 Nuclear receptor corepressor, Transcriptional corepressor
SCA1 Ataxin-1, alt-ATXN1 6-39 (CAG) 40-82 RNA processing, Transcription factor, Transcriptional corepressor, general repressor of transcription
SCA2 and amyotrophic lateral sclerosis (ALS) Ataxin-2 15-24 (CAG) 27-33 for ALS, 32-200 for SCA2 RNA binding protein
SCA3, Machado-Joseph disease Ataxin-3 13-36 (CAG) 61-84 Transcription factor, Transcriptional coactivator, Transcriptional repressor, Histone H2B deubiquitinase
SCA6 α1A voltage-dependent calcium channel subunit, and α1ACT 4-18 (CAG) 19-33 Voltage-gated calcium channel, Transcription factor
SCA7 Ataxin-7 4-35 (CAG) 36-460 Integral member of SAGA complex, regulation of histone acetylation and ubiquitination.
SCA17 TATA box binding protein (TBP) 25-42 (CAG) 47-63 General transcription factor, member of TFIID complex