ATXN7
ATXN7[edit | edit source]
ATXN7 (Ataxin-7) is a protein encoded by the ATXN7 gene in humans. This protein is associated with a neurodegenerative disorder known as Spinocerebellar ataxia type 7 (SCA7), which is characterized by progressive problems with movement and vision.
Structure[edit | edit source]
The ATXN7 protein is part of the SAGA complex, a multi-subunit complex involved in transcriptional regulation. It contains a polyglutamine tract, which is a sequence of glutamine amino acids repeated multiple times. The length of this tract is variable and can expand due to genetic mutations, leading to disease.
Function[edit | edit source]
ATXN7 plays a role in transcriptional regulation by being a component of the SAGA complex, which is involved in histone acetylation and deubiquitination. These processes are crucial for the regulation of gene expression. The normal function of ATXN7 is essential for the proper functioning of neurons.
Pathology[edit | edit source]
Mutations in the ATXN7 gene, specifically expansions of the CAG repeat that encodes the polyglutamine tract, lead to the development of Spinocerebellar ataxia type 7. This expansion results in a longer polyglutamine tract in the ATXN7 protein, which causes it to misfold and aggregate in neurons. These aggregates disrupt normal cellular functions and lead to the degeneration of neurons, particularly in the cerebellum and retina, causing the symptoms of ataxia and vision loss.
Clinical Significance[edit | edit source]
The clinical presentation of SCA7 includes progressive ataxia, dysarthria, and retinal degeneration leading to vision loss. The age of onset and severity of the disease correlate with the number of CAG repeats in the ATXN7 gene. Genetic testing can confirm the diagnosis by identifying the expanded CAG repeat.
Research Directions[edit | edit source]
Current research on ATXN7 focuses on understanding the mechanisms of polyglutamine toxicity, developing therapies to reduce or prevent protein aggregation, and exploring gene therapy approaches to correct the underlying genetic defect.
Also see[edit | edit source]
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