Recombinant Human Neurofilament heavy polypeptide (NEFH), Truncated

Uniprot Id

P12036

Target Species

Human

Target Name

NEFH

Target Full Name

Neurofilament heavy polypeptide

Target Function

Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks.

Target Involvement

Amyotrophic lateral sclerosis (ALS); Charcot-Marie-Tooth disease 2CC (CMT2CC)

Target Subcellular Location

Cytoplasm, cytoskeleton. Cell projection, axon.

Target Protein Families

Intermediate filament family

Target Research Area

Neuroscience

Target Synonyms

200 kDa neurofilament protein; CMT2CC; Nefh; Neurofilament heavy polypeptide 200kDa; Neurofilament heavy polypeptide; Neurofilament triplet H protein; NF H; NF-H; NFH; NFH_HUMAN

Target Background

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.