NEPRO
Description
The NEPRO gene, also known as NEFH, encodes for the neurofilament heavy polypeptide, a major component of the neuronal cytoskeleton. This protein is crucial for the structural integrity and function of neurons, particularly in the maintenance of axon caliber and length. Mutations in the NEPRO gene can lead to various neurological disorders, underscoring its critical role in neuronal health.
Associated Diseases
- Charcot-Marie-Tooth disease type 2E (CMT2E)
- Giant Axonal Neuropathy (GAN)
- Hereditary Sensory and Autonomic Neuropathy type 1 (HSAN1)
- Amyotrophic Lateral Sclerosis (ALS)
Did you know?
Neurofilament proteins are the most abundant proteins in the brain.
