The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.

ABSTRACT: An extensive protein-protein interaction network has been identified between proteins implicated in inherited ataxias. The protein sacsin, which is mutated in the early-onset neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay, is a node in this interactome. Here, we have established the neuronal expression of sacsin and functionally characterized domains of the 4579 amino acid protein. Sacsin is most highly expressed in large neurons, particularly within brain motor systems, including cerebellar Purkinje cells. Its subcellular localization in SH-SY5Y neuroblastoma cells was predominantly cytoplasmic with a mitochondrial component. We identified a putative ubiquitin-like (UbL) domain at the N-terminus of sacsin and demonstrated an interaction with the protea

SUBMITTER: Parfitt DA 

PROVIDER: S-EPMC2667285 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature