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GENATLAS PHENOTYPE
last update : 29-08-2014
Symbol ALS12
Location 10p13
Name amyotrophic lateral sclerosis 12
Corresponding gene OPTN
Main clinical features
  • onset from 30 to 60 years of age
  • relatively slow progression and long duration before respiratory failure, although the clinical phenotypes were not homogeneous
    • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)
  • OPTN suppresses nuclear factor-kappa B (NFKB) activity, but the ALS-causing mutant OPTN is unable to suppress NFKB activity (PMID: 23721573))