Gene Symbol | TTBK2 |
Entrez Gene ID | 146057 |
Full Name | tau tubulin kinase 2 |
Synonyms | SCA11,TTBK |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This 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]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia 11, 604432 (3) |