Nefh - neurofilament, heavy polypeptide

A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in axon development. Acts upstream of or within cellular response to leukemia inhibitory factor; cytoskeleton organization; and peripheral nervous system neuron axonogenesis. Located in several cellular components, including Schaffer collateral - CA1 synapse; intermediate filament cytoskeleton; and postsynaptic density. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system gland; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Orthologous to human NEFH (neurofilament heavy chain). [provided by Alliance of Genome Resources, Apr 2022]