Nefh - neurofilament heavy chain

Enables protein-macromolecule adaptor activity and toxic substance binding activity. A structural constituent of cytoskeleton. Involved in several processes, including cellular response to estradiol stimulus; nervous system development; and ovarian follicle atresia. Located in several cellular components, including dendrite; intermediate filament; and perikaryon. Used to study congenital hypothyroidism. Biomarker of glaucoma; hypothyroidism; phenylketonuria; sciatic neuropathy; and transient cerebral ischemia. 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]