reagents qc – Ataxin

New alternative splicing variants of the ATXN2 transcript

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Background: Spinocerebellar ataxia sort 2 (SCA2) is an autosomal dominant dysfunction with progressive degeneration of cerebellar Purkinje cells and selective lack of neurons within the brainstem. This neurodegenerative dysfunction is attributable to the enlargement of a polyglutamine area in ataxin-2. Ataxin-2 consists of 1312 amino acids, has a predicted molecular weight of 150-kDa and is extensively expressed in neuronal and non-neuronal tissues. Up to now, the putative features of ataxin-2 on mRNA translation and endocytosis stay ill-defined. Differential splicing with a scarcity of exons … Continue reading “New alternative splicing variants of the ATXN2 transcript”