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GENATLAS PHENOTYPE
last update : 23/12/2008
Symbol ALS4
Location 9q34.13
Name familial amyotrophic lateral sclerosis 4
Corresponding gene SETX
Other symbol(s) TALS2
Main clinical features
  • neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis
  • juvenile type, slow progression
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name senataxin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/gain of function causing a toxic gain of function
    Remark(s)