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GENATLAS PHENOTYPE
last update : 11-04-2019
Symbol SCA11
Location 15q15.2
HGNC id 10550
Name spinocerebellar ataxia 11
Other name(s) spinocerebellar ataxia, type III
Corresponding gene TTBK2
Other symbol(s) ADCA3
Main clinical features
  • benign, late onset with uncomplicated cerebellar syndrome, often associated with epilepsia
  • poor coordination, abnormal eye movements, impairment of speech and swallowing, and pyramidal signs
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name tau tubulin kinase 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function to the conserved serine-rich region of the protein
    Remark(s) . SCA11 truncating mutations promote TTBK2 protein expression, suppress kinase activity and lead to enhanced nuclear localization (PMID: 21548880))