Information scientifique avancée
Tau-Tubulin Kinase 2
Thi s gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]
TTBK2 (Tau Tubulin Kinase 2) is a Protein Coding gene. Diseases associated with TTBK2 include Spinocerebellar Ataxia 11 and Spinocerebellar Ataxia Type11. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TTBK1.