Neurofilament heavy polypeptide (NF-H)
Neurofilament heavy polypeptide (NF-H) is one of several neurofilament cytoplasmic proteins found in neurons. Neurofilaments are a major component of the neuronal cytoskeleton and are believed to provide both structural support for the axon and regulate axon diameter, thereby maintaining the transmission of electrical impulses along axons. Neurofilaments from the central nervous system are heteropolymers composed of four subunits - neurofilament heavy, medium, and light polypeptides (NFH, NFM and NFL, respectively) - as well as a-internexin, whereas in the peripheral nervous system, neurofilaments are made up of NFH, NFM, NFL and peripherin. Neuromas, ganglioneuromas, gangliogliomas, ganglioneuroblastomas and neuroblastomas stain positively for neurofilaments. Although typically restricted to neurons, neurofilaments have been detected in paragangliomas, adrenal, and extra-adrenal pheochromocytomas. Carcinoids, neuroendocrine carcinomas of the skin, and oat cell carcinomas of the lung also express neurofilaments. Increased accumulation of neurofilaments in neurons has been associated with neurological diseases such as giant axonal neuropathy, diabetic neuropathy, spinal muscular atrophy, Alzheimer’s and Parkinson’s disease.
Swiss-Prot Accession Number: P12036