TTBK2
Description
The TTBK2 (tau tubulin kinase 2) is a protein-coding gene located on chromosome 15.
TTBK2 (Tau tubulin kinase 2) is a protein encoded by the TTBK2 gene in humans. It is a serine-threonine kinase that is thought to phosphorylate tau and tubulin proteins. Mutations in the TTBK2 gene cause spinocerebellar ataxia type 11 (SCA11), a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem.
TTBK2 is a serine/threonine kinase that plays a crucial role in the initiation of ciliogenesis. It binds to the distal end of the basal body and promotes the removal of CCP110, a protein that caps the mother centriole. This removal allows for the recruitment of IFT proteins, which are essential for building the ciliary axoneme. TTBK2 exhibits a preference for substrates that are already phosphorylated on a tyrosine residue at the +2 position relative to the phosphorylation site. It can phosphorylate tau in vitro, and it also phosphorylates MPHOSPH9, leading to its ubiquitination and proteasomal degradation. The loss of MPHOSPH9 facilitates the removal of the CP110-CEP97 complex, a negative regulator of ciliogenesis, from the mother centrioles, further promoting the initiation of ciliogenesis.
TTBK2 is also known as SCA11, TTBK.
