Chemicals and Drugs [D] » Amino Acids, Peptides, and Proteins [D12] » Proteins » Nerve Tissue Proteins » Ataxins
Chemicals and Drugs [D] » Amino Acids, Peptides, and Proteins [D12] » Proteins » Nuclear Proteins » Ataxins
Description
A family of predominantly nuclear proteins that regulate gene transcription and protein degradation. The expansion of CAG trinucleotide repeats in genes that encode Ataxins is associated with SPINOCEREBELLAR ATAXIAS (SCA). In SCA patients, the number of CAG repeats correlates with the severity of disease and inversely correlates with the age of disease onset. MeSH
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