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ATXN1
ATXN1 (Ataxin 1): ATXN1 is a gene that encodes the ataxin-1 protein, which plays a role in neuronal function. Mutations in ATXN1, particularly those involving expanded CAG repeats, lead to spinocerebellar ataxia type 1 (SCA1) — a neurodegenerative disorder characterised by progressive loss of motor coordination and balance. Studying ATXN1 is important for understanding SCA1 and developing potential treatments for related neurological diseases.
Tests containing this item
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