Overview:

TTBK1 or tau-tubulin kinase 1 is a recently discovered brain-specific protein kinase involved in tau phosphorylation at Alzheimer’s disease-related sites. Two single nucleotide polymorphisms have been observed in the TTBK1 gene and these may play an important role in the pathogenesis of sporadic late-onset Alzheimer's disease (1). TTBK1 levels are upregulated in brains of human Alzheimer' disease (AD) patients compared with age-matched non-AD controls (2). Overexpression of TTBK1 in transgenic mice leads to increased phosphorylation-related neurofilament aggregation which results in significant age-dependent memory impairment.

Gene Aliases:

BDTK; RP3-330M21.4

Genbank Number:

NM_032538

References:

1. Yu, N N. et al: Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han Chinese. Neurosci Lett. 2011 Mar 10;491(1):83-6.

2. Sato, S. et al: Spatial learning impairment, enhanced CDK5/p35 activity, and downregulation of NMDA receptor expression in transgenic mice expressing tau-tubulin kinase 1. J Neurosci. 2008 Dec 31;28(53):14511-21.