Tags: Protein.

Ataxin-1 is a protein that in humans is encoded by the ATXN1 gene.Mutations in this gene have been linked to neuronal death in suffers of spinocerebellar ataxia type 1 an inherited neurodegenerative disease characterized by a progressive loss of cerebellar neurons. Pathogenic ATXN1 contains an abnormally elongated stretch of the amino acid glutamine. This causes the protein to spontaneously misfold and form aggregates.

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