TTBK

Two human genes, TTBK1 and TTBK2, define the tau tubulin kinase family. Both combine an N-terminal CK1-like catalytic domain with an extended proline-rich C-terminal tail whose function is still poorly resolved. The family name reflects their original identification as kinases that phosphorylate tau and tubulin at sites found in neurofibrillary pathology, and TTBK1 modifies tau epitopes present in Alzheimer disease brains. TTBK2 has an additional, non-redundant job in ciliogenesis: it clears CP110 from the mother centriole so that the cilium can assemble, and it participates in ciliary disassembly. Truncating TTBK2 mutations cause spinocerebellar ataxia type 11, an autosomal dominant cerebellar degeneration.