NEFL
MIM.162280 8p21
Neurofilaments are composed of 3 neuron-specific proteins with apparent molecular masses of 68 kD (NEFL), 125 kD (NEFM), and 200 kD (NEFH) on SDS-gel electrophoresis.
Pathology
NEFL germline mutations in
- autosomal dominant Charcot-Marie-Tooth disease of the 2E axonal form (CMT2E) (MIM.607684)
- germline mutations in Charcot-Marie-Tooth disease of the 1F type (CMT1F) (MIM.607734)