ATXN1
Description
The ATXN1 gene, located on chromosome 6, encodes the protein ataxin-1. This protein plays a crucial role in the regulation of gene expression and protein degradation. Mutations in the ATXN1 gene, specifically an expanded CAG repeat, are the primary cause of spinocerebellar ataxia type 1 (SCA1), an inherited neurodegenerative disorder. SCA1 is characterized by progressive cerebellar dysfunction, leading to ataxia (lack of coordination), dysarthria (speech difficulty), and other neurological symptoms. The ATXN1 gene provides a valuable target for understanding the pathogenesis of SCA1 and developing potential therapeutic interventions.
Associated Diseases
Did you know?
The length of the CAG repeat in the ATXN1 gene directly correlates with the severity and age of onset of SCA1.
