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GENATLAS PHENOTYPE
last update : 20/06/2006
Symbol CMT2A1
Location 1p36.22
Name Charcot-Marie-Tooth disease, axonal, type 2A1
Other name(s)
  • hereditary motor sensory neuropathy 2A
  • Charcot-Marie-Tooth neuropathy type 2A1
    • Corresponding gene KIF1B
    Other symbol(s) HSM IIa, HMSN2A
    Main clinical features
  • distal muscle weakness and amyotrophy, sensory loss, decreased or absent tendon reflexes, axonal, with normal nerve conduction velocity, (likely a minor locus)
    • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name . kinesin 1B
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function loss of function of MFN2, repressing nuclear-encoded subunits of complexes I, II, III, V
    Remark(s)