ataxin12s

Ataxin12s is a protein that belongs to the ataxin family, which are involved in various cellular processes. The ataxin family is named after the ataxia, a group of neurological disorders characterized by loss of coordination and balance. Ataxin12s is specifically associated with spinocerebellar ataxia type 12 (SCA12), a rare genetic disorder that affects the cerebellum, a region of the brain responsible for motor control and coordination.

SCA12 is caused by an expansion of a CAG repeat in the ATXN12 gene, which encodes for ataxin12s. This expansion leads to the production of an abnormally long ataxin12s protein, which is toxic to neurons. The exact mechanism by which the expanded ataxin12s protein causes neuronal damage is not fully understood, but it is believed to involve the disruption of normal protein-protein interactions and the aggregation of the protein into toxic inclusions.

The symptoms of SCA12 typically begin in late adolescence or early adulthood and include gait ataxia, dysarthria, and dysmetria. The disorder progresses over time, leading to severe disability and, in some cases, death. There is currently no cure for SCA12, but various treatments are available to manage symptoms and slow the progression of the disease.

Ataxin12s is also found in other species, including mice and flies, and has been used as a model to study the mechanisms of ataxia and other neurodegenerative disorders. Research on ataxin12s has provided valuable insights into the molecular pathways involved in neurodegeneration and has led to the development of potential therapeutic strategies for treating ataxia and other related disorders.