Neurofilament heavy polypeptide - phosphorylated (pNF-H)
Neurofilament heavy polypeptide 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. Phosphorylation of many serine residues in repeated lysine-serine-proline (KSP) sequences of NF-H (pNF-H) is thought to play a role in axonal maintenance and the formation of interfilament cross bridges, with increased detectability of pNF-H being associated with brain and central nervous system injuries, and disease progression of amyotrophic lateral sclerosis (ALS).
Swiss-Prot Accession Number: P12036
Product AssociationsThis analyte is not currently part of Myriad RBM's testing menu.