Recombinant Human Neurofilament light polypeptide (NEFL)

Uniprot Id

P07196

Target Species

Human

Target Name

NEFL

Target Full Name

Neurofilament light polypeptide

Target Function

Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks.

Target Involvement

Charcot-Marie-Tooth disease 1F (CMT1F); Charcot-Marie-Tooth disease 2E (CMT2E)

Target Subcellular Location

Cell projection, axon. Cytoplasm, cytoskeleton.

Target Protein Families

Intermediate filament family

Target Research Area

Others

Target Synonyms

NEFL; NF68; NFL; Neurofilament light polypeptide; NF-L; 68 kDa neurofilament protein; Neurofilament triplet L protein

Target Background

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y.