Neurofilament Nf-H (NEFH) Antibody

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]

NFH: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins. Belongs to the intermediate filament family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 22q12.2

Cellular Component: mitochondrion; axon; cytoplasm; neurofilament

Molecular Function: protein binding, bridging; dynein binding; structural constituent of cytoskeleton; kinesin binding; microtubule binding; structural molecule activity; protein kinase binding

Biological Process: neurofilament bundle assembly; axonogenesis; microtubule cytoskeleton organization and biogenesis; cell projection biogenesis; peripheral nervous system neuron axonogenesis

Disease: Amyotrophic Lateral Sclerosis 1