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Mutation data in current KMbrainDB

  Affected Tissue/Organ Chromosome Gene Product Gene Symbol # of Mutation Entry Disease Name Curator

 

Substantia nigra 4 Synuclein, alpha SNCA 4 Parkinson's disease Keio Univ. DMB.

 

Substantia nigra 6 parkin Parkin/ PARK2 8 parkinsonism, juvenile Keio Univ. DMB.

 

Peripheral nerve 1 myelin protein zero MPZ 56 Charcot-Marie-Tooth disease type 1B Keio Univ. DMB.

 

          Dejerine-Sottas syndrome  

 

Peripheral nerve 17 peripheral myelin protein 22 PMP22 14 Charcot-Marie-Tooth disease type 1A Keio Univ. DMB.

 

          Dejerine-Sottas syndrome  

 

Peripheral nerve X gap junction protein, beta-1, 32-kd GJB1 87 X-linked Charcot-Marie-Tooth disease type 1 Keio Univ. DMB.

 

          X-linked Charcot-Marie-Tooth disease type 2