Neurofilament Light
Neurofilament Light (NEFL, also known as NFL, NF68 and PPP1R110) is the light chain of the neuronal neurofilament, a type IV intermediate filament. It helps maintain neuronal calibre and forms part of the axonal cytoskeleton. Browse Assay Genie's current range of Neurofilament Light research reagents below, or read on for the biology behind the target.
Neurofilaments are type IV intermediate filament heteropolymers that usually contain three proteins: the light chain (NEFL), the medium chain (NEFM) and the heavy chain (NEFH). Together they make up the axoskeleton and are involved in maintaining neuronal calibre. Neurofilament Light may also cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks, and the wider neurofilament network may play a role in intracellular transport to axons and dendrites.
The NEFL gene encodes the light chain neurofilament protein, which belongs to the intermediate filament family. UniProt places the protein in the axon and in the cytoplasmic cytoskeleton. Mouse and rat each carry a Nefl ortholog, so the target can be studied in common rodent models. NCBI Gene also notes a pseudogene on chromosome Y.
HGNC groups the gene with type IV intermediate filaments, protein phosphatase 1 regulatory subunits and microRNA protein coding host genes. Its previous names include neurofilament, light polypeptide 68kDa, and the symbol PPP1R110 appears among its aliases. Mutations in NEFL cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system characterised by distinct neuropathies. This disease association makes Neurofilament Light a frequent subject in neuronal cytoskeleton and peripheral neuropathy research.
Neurofilament Light is a core subunit of the axoskeleton, so it is central to studies of how neurons build and maintain their structure.
Neurofilaments maintain neuronal calibre and may contribute to intracellular transport to axons and dendrites, making NEFL relevant to axon physiology.
Mutations in NEFL cause CMT1F and CMT2E, peripheral neuropathies that are studied through this gene and its protein product.
NEFL works with NEFM and NEFH, and possibly PRPH and INA, to form neuronal filamentous networks that researchers use to study filament assembly.
Neurofilament Light is one of three proteins that usually make up neurofilaments, alongside NEFM and NEFH. These filaments form the axoskeleton and are involved in maintaining neuronal calibre. It may also cooperate with PRPH and INA to form neuronal filamentous networks.
The gene symbol is NEFL, and aliases include NFL, NF68, PPP1R110, CMT1F and CMT2E. Earlier names include neurofilament, light polypeptide 68kDa and neurofilament light. The full HGNC name is neurofilament light chain.
Yes. Mutations in NEFL cause Charcot-Marie-Tooth disease types 1F and 2E, which are peripheral nervous system neuropathies. Mouse and rat both have a Nefl ortholog. Check the datasheet of any product for its validated reactivity.
Other neurofilament subunits and neuronal intermediate filament proteins that partner with Neurofilament Light.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P07196; product specifications from Assay Genie datasheets.