This product is an active protein and may elicit a biological response in vivo, handle with caution.
Spinocerebellar ataxia 11
Tau tubulin kinase 2
Tau-tubulin kinase 2
Serine/threonine kinase which is able to phosphorylate tau on serines.
Involvement in disease
Defects in TTBK2 are the cause of spinocerebellar ataxia type 11 (SCA11) [MIM:604432]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late-onset, slowly progressive neurologic disorder.
Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Contains 1 protein kinase domain.