ATXN2 : ataxin 2

Description

The ATXN2 (ataxin 2) is a protein-coding gene located on chromosome 12.

The ATXN2 gene provides instructions for making ataxin-2 protein, found throughout the body. Its function is unknown, but it resides in the cytoplasm and interacts with the endoplasmic reticulum, involved in protein production, processing, and transport. Researchers believe ataxin-2 might be involved in RNA processing and protein translation. The ATXN2 gene contains a CAG trinucleotide repeat, which normally repeats approximately 22 times.

ATXN2 regulates the trafficking of epidermal growth factor receptor (EGFR) by inhibiting its internalization from the plasma membrane.

ATXN2 is also known as ATX2, SCA2, TNRC13.

Associated Diseases

• Parkinson disease, late-onset
• Amyotrophic lateral sclerosis
• Spinocerebellar ataxia type 2
• Spinocerebellar ataxia 2