ATXN10
Description
The ATXN10 (ataxin 10) is a protein-coding gene located on chromosome 22.
Ataxin-10 is a protein encoded by the ATXN10 gene in humans. It is associated with autosomal dominant cerebellar ataxias (ADCAs), a group of disorders characterized by movement coordination problems. These disorders are classified based on the presence or absence of additional symptoms like brainstem signs or retinopathy. Defects in ATXN10 have also been linked to Joubert syndrome, a rare neurological disorder.
Ataxin-10 is essential for the survival of cerebellar neurons. It promotes neuritogenesis by activating the Ras-MAP kinase pathway and may play a role in maintaining a balanced intracellular glycosylation level and overall homeostasis.
ATXN10 is also known as ATX10, E46L, HUMEEP, SCA10.
