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GENATLAS PHENOTYPE
last update : 30-08-2012
Symbol ALS2
Location 2q33.1
HGNC id 443
Name familial amyotrophic lateral sclerosis
Corresponding gene ALS2
Other symbol(s) JALS, RFALS3
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, in North African and Middle Eastern countries, not in Japanese people
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name alsin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   abnormal protein/loss of function protein with guanine-nucleotide exchange factor (GEF) domains
    Remark(s)