Ataxin 3

Protein ATXN3 PDB 1yzb

Ataxin 3

Ataxin 3 is a protein that in humans is encoded by the ATXN3 gene. This gene provides instructions for making the ataxin-3 protein, which is involved in normal cellular processes. Mutations in the ATXN3 gene can lead to the production of an abnormal form of the ataxin-3 protein, which is associated with the development of certain neurodegenerative disorders.

Structure

The ataxin-3 protein consists of a series of repeated amino acid building blocks known as polyglutamine tracts. These tracts are normally present in the protein in a specific range of lengths. However, mutations in the ATXN3 gene can cause the polyglutamine tracts to become abnormally long, leading to the formation of protein clumps within cells.

Function

Ataxin-3 is involved in the breakdown and recycling of other proteins in the cell. It plays a role in a process called protein quality control, which helps to ensure that damaged or misfolded proteins are properly degraded. When ataxin-3 is mutated, this process is disrupted, leading to the accumulation of toxic protein aggregates.

Role in Disease

Mutations in the ATXN3 gene are associated with several neurodegenerative disorders, including spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease. SCA3 is characterized by progressive problems with movement, coordination, and balance. The abnormal accumulation of ataxin-3 protein in the brain is thought to contribute to the development of SCA3 symptoms.

Research

Scientists are actively studying the role of ataxin-3 in neurodegenerative diseases in order to develop potential treatments. Research efforts are focused on understanding how mutations in the ATXN3 gene lead to the formation of toxic protein aggregates and exploring strategies to prevent or reverse this process.

See also

• Spinocerebellar ataxia type 3
• Neurodegenerative disease

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