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Protein Page:
TTBK2 (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: CK1 group; EC 2.7.11.1; Kinase, protein; Protein kinase, CK1; Protein kinase, Ser/Thr (non-receptor); TTBK family
Chromosomal Location of Human Ortholog: 15q15.2
Cellular Component: centriole; cytosol; extracellular space; nucleus
Molecular Function: protein binding; protein serine/threonine kinase activity
Biological Process: cilium biogenesis; peptidyl-serine phosphorylation; regulation of cell shape; smoothened signaling pathway
Disease: Spinocerebellar Ataxia 11
Reference #:  Q6IQ55 (UniProtKB)
Alt. Names/Synonyms: KIAA0847; Tau-tubulin kinase 2; TTBK2
Gene Symbols: TTBK2
Molecular weight: 137,412 Da
Basal Isoelectric point: 6.54  Predict pI for various phosphorylation states
Select Structure to View Below

TTBK2

Protein Structure Not Found.


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