The protein-protein interaction (PPI) between Ataxin-1 (ATXN1) have been implicated in spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disease primarily caused by polyglutamine expansion in the ATXN1 protein [1].
Function
Disease
Relevance
Structural highlights
Mutation studies of the complex showed that highly conserved residues of CIC, display hydrophobic contacts with highly conserved residues of the AXH domain, . These residues were found to be required for the PPI interaction as any combination mutation of these residues lead to the disruption of the PPI formation.
