cerebellin4

Cerebellin4 is a protein that is encoded by the CABIN4 gene in humans. It is a member of the cerebelin family of proteins, which are involved in various cellular processes, including cell signaling, cell cycle regulation, and apoptosis. Cerebellin4 is primarily expressed in the brain, particularly in the cerebellum, where it plays a crucial role in motor coordination and balance.

The CABIN4 gene is located on chromosome 17q21.3. Mutations in this gene have been associated with several neurological disorders, including spinocerebellar ataxia type 13 (SCA13) and spinocerebellar ataxia type 31 (SCA31). These disorders are characterized by progressive degeneration of the cerebellum, leading to symptoms such as unsteady gait, difficulty with coordination, and loss of muscle control.

Cerebellin4 is a large protein with a molecular weight of approximately 100 kDa. It contains several domains, including a C-terminal domain that is essential for its function. The protein is thought to interact with various cellular partners, including other cerebelins and proteins involved in cell signaling and cell cycle regulation.

In summary, cerebellin4 is a protein encoded by the CABIN4 gene, which is expressed primarily in the brain and plays a crucial role in motor coordination and balance. Mutations in this gene have been associated with several neurological disorders, and further research is needed to fully understand its function and potential therapeutic targets.