Ataxin 1

Ataxin 1 (ATXN1) is a protein that in humans is encoded by the ATXN1 gene. It is located on chromosome 6 and is associated with the neurodegenerative disorder Spinocerebellar ataxia type 1 (SCA1).

Function

Ataxin 1 is a protein that is involved in the regulation of RNA metabolism and chromatin remodeling. It interacts with several other proteins, including Brother of ataxin 1 (BOAT), Capicua (CIC), and Retinoblastoma-binding protein 6 (RBBP6).

Clinical significance

Mutations in the ATXN1 gene are associated with SCA1, a type of spinocerebellar ataxia (SCA). This is a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.

Structure

The ATXN1 gene provides instructions for making a protein that is active in nerve cells (neurons), particularly in the cerebellum, which is the part of the brain that coordinates movement.

See also

• Spinocerebellar ataxia
• Ataxin
• Neurodegeneration

External links

• ATXN1 at National Center for Biotechnology Information
• ATXN1 at Genetics Home Reference

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