Ataxin-1 is a DNA-binding protein which in humans is encoded by the ATXN1 gene.
Ataxin 7 (ATXN7) is a protein of the SCA7 gene, which contains 892 amino acids with an expandable poly(Q) region close to the N-terminus. The expandable poly(Q) motif region in the protein contributes crucially to spinocerebellar ataxia (SCA) pathogenesis by the induction of intranuclear inclusion bodies. ATXN7 is associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7).
Ataxin-2 is a protein that in humans is encoded by the ATXN2 gene. Mutations in ATXN2 cause spinocerebellar ataxia type 2 (SCA2).
Ataxin-3 is a protein that in humans is encoded by the ATXN3 gene.
Ataxin-10 is a protein that in humans is encoded by the ATXN10 gene.
Constitutive coactivator of PPAR-gamma-like protein 1 is a protein that in humans is encoded by the FAM120A gene.
Zinc finger protein 638 is a protein that in humans is encoded by the ZNF638 gene.
Myosin-XVIIIa is a protein that in humans is encoded by the MYO18A gene.
OTU domain-containing protein 4 is a protein that in humans is encoded by the OTUD4 gene.
Tubulin-folding cofactor B is a protein that in humans is encoded by the TBCB gene.
Puratrophin-1 is a protein that in humans is encoded by the PLEKHG4 gene.
Zinc finger protein ubi-d4 is a protein that in humans is encoded by the DPF2 gene.
Splicing factor, arginine/serine-rich 16 is a protein that in humans is encoded by the SFRS16 gene.
Fox-1 homolog A, also known as ataxin 2-binding protein 1 (A2BP1) or hexaribonucleotide-binding protein 1 (HRNBP1) or RNA binding protein, fox-1 homolog (Rbfox1), is a protein that in humans is encoded by the RBFOX1 gene.
IST1 homolog is a protein that in humans is encoded by the KIAA0174 gene.
Glucocorticoid-induced transcript 1 protein is a protein that in humans is encoded by the GLCCI1 gene.
Capicua transcriptional repressor is a protein that in humans is encoded by the CIC gene. Capicua functions as a transcriptional repressor in a way that ensures its impact on the progression of cancer, and plays a significant role in the operation of the central nervous system through its interaction with ataxin 1. The name of the protein derives from the Catalan expression cap-i-cua which literally translates to "head-and-tail".
CDK12 cyclin-dependent kinase 12 is a protein kinase that in humans is encoded by the CDK12 gene. This enzyme is a member of cyclin-dependent kinase protein family.
Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or Kv3.3 is a protein that in humans is encoded by the KCNC3.
Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological symptoms including dysarthria, hypermetric saccades, and ataxia of gait and stance. This cerebellar dysfunction is progressive and permanent. First onset of symptoms is normally between 30 and 40 years of age, though juvenile onset can occur. Death typically occurs within 10 to 30 years from onset.
