Ttbk2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
TTBK2 encodes Tau tubulin kinase 2, a serine/threonine kinase highly expressed in cerebellar Purkinje cells and involved in neuronal development, ciliary function, and tau phosphorylation. Mutations in TTBK2 cause Spinocerebellar Ataxia type 11 (SCA11), characterized by progressive cerebellar degeneration. TTBK2 is also implicated in Alzheimer's disease through tau phosphorylation pathways. [1]
| Attribute | Value | [2]
|-----------|-------| [3]
| Gene Symbol | TTBK2 | [4]
| Full Name | Tau Tubulin Kinase 2 |
| Chromosomal Location | 15q15.2 |
| NCBI Gene ID | 146057 |
| OMIM | 611475 |
| Ensembl ID | ENSG00000146386 |
| UniProt ID | Q8IWQ3 |
| Associated Diseases | SCA11 (Spinocerebellar Ataxia 11), Alzheimer's Disease |
TTBK2 is a neuronal kinase with multiple functions:
The protein localizes to the centrosome/basal body of cilia and throughout the neuronal cytoplasm.
High expression in:
The study of Ttbk2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Boutte AM, Corcoran LJ, Abu-Qare L, et al. TTBK2: a serine/threonine kinase with diverse cellular functions. Cell Signal. 2020. ↩︎
Matsumoto T, Futamura M, Araki Y, et al. TTBK2 phosphorylates tau at multiple sites and promotes microtubule assembly. J Biol Chem. 2013. ↩︎
Lund H, Cowburn RF, Fuxe K, et al. TTBK2 in health and disease. Neurobiol Dis. 2020. ↩︎
Qian W, Shi J, Yin L, et al. TTBK2-mediated phosphorylation of tau: implications for Alzheimer's disease. Mol Neurobiol. 2021. ↩︎