NEFH
NEFH
A gene on chromosome 22q12.2 that encodes the heavy neurofilament protein that comprises the axoskeleton, functionally maintains neuronal caliber, and may play a role in intracellular transport to axons and dendrites; it is commonly used as a biomarker of neuronal damage.Molecular pathology
NEFH mutations have been associated with increased susceptibility to amyotrophic lateral sclerosis (Lou Gehrig disease).