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GENATLAS PHENOTYPE

last update : 27-08-2014

Symbol	SCA35
Location	20p13
Name	spinocerebellar ataxia 35
Corresponding gene	TGM6
Main clinical features	adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia with frequent upper limb involvement and torticollis but no cognitive impairment
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

SCA35-associated mutants exhibited reduced transglutaminase activity (PMID: 23800413))