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What is the cellular molecular most important points in the NEFL gene?

What is the cellular molecular most important points in the NEFL gene?

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NEFL gene encodes for the neurofilament light polypeptide subunit which forms type IV intermediate heteropolymers. These heteropolymers are the major component of neural cytoskeleton. NEFL gene has unusual intron-exon organization and has less introns (3 introns). NEFL encodes 62 kDa protein which is most abundant in cytoskeletal component of neural cells. It can associate with neurofilaments of NEFM and NEFH chain polypeptides and form fibrous network in neuron cytoplasm.

  • Their function is to maintain neuronal caliber.
  • It plays an important role in intracellular transport to axon and dendrites.
  • Mutation in this gene cause Charcot-Marie- Tooth disease type 1F and 2E.
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