A protein (4579 aa) that is highly expressed in the central nervous system and may have a chaperone-type role. Mutations in the gene cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is an early onset neurodegenerative disease with high prevalence in the Charlevoix-Saguenay–Lac-Saint-Jean region of Quebec, Canada. It is characterized by absent sensory nerve conduction, reduced motor nerve velocity, and hypermyelination of retinal nerve fibres.
Subjects: Medicine and Health — Chemistry.