TTBK2 Antibody – Rabbit Polyclonal

This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]

TTBK2: Serine/threonine kinase which is able to phosphorylate tau on serines. Defects in TTBK2 are the cause of spinocerebellar ataxia type 11 (SCA11). 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. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.7.11.1; Protein kinase, CK1; Protein kinase, Ser/Thr (non-receptor); Kinase, protein; CK1 group; TTBK family

Chromosomal Location of Human Ortholog: 15q15.2

Cellular Component: centriole; extracellular space; cytosol; nucleus

Molecular Function: protein serine/threonine kinase activity; protein binding; ATP binding

Biological Process: regulation of cell shape; peptidyl-serine phosphorylation; smoothened signaling pathway; organelle organization and biogenesis; cilium biogenesis

Disease: Spinocerebellar Ataxia 11