NEFL Human
Description
Molecular Structure and Function
NEFL is a 68 kDa protein belonging to the Class IV intermediate filament family. It forms heteropolymers with neurofilament medium (NEFM) and heavy (NEFH) chains, which stabilize neuronal axons and regulate organelle transport . Key functional attributes include:
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Post-translational modifications: Phosphorylation (mediated by PKA/PKC) inhibits filament assembly, while dephosphorylation (via PP2A) enables axonal transport .
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Transport dynamics: NEFL undergoes bidirectional "stop-and-go" transport along microtubules via kinesin and dynein motors .
Genetic Variants and Associated Disorders
Mutations in NEFL are linked to Charcot-Marie-Tooth disease (CMT) subtypes 1F (demyelinating) and 2E (axonal) .
Homozygous nonsense mutations result in near-complete loss of NEFL mRNA and protein, causing severe axonal degeneration despite compensatory neurofilament formation in vitro .
Biomarker Applications
NEFL levels in cerebrospinal fluid (CSF) and blood correlate with axonal damage severity:
Recent studies highlight NEFL's role in traumatic brain injury and HIV-associated dementia, with CSF/blood ratios aiding in blood-brain barrier integrity assessments .
Research Models and Therapeutic Insights
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Stem cell-derived neurons: Patient-specific motor neurons lacking NEFL show intact axonal networks but reduced mRNA (<5% of controls) .
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Murine models: Nefl knockout mice exhibit mild phenotypes (e.g., slower nerve regeneration), contrasting severe human neuropathies .
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Therapeutic challenges: NEFL removal, once proposed for neurofilament aggregation disorders, exacerbates neuropathy in humans .
Emerging Frontiers
Product Specs
Neurofilament light polypeptide (NEFL), encoded by the NEFL gene, is linked to Charcot-Marie-Tooth disease. This protein's light subunit, detectable in plasma and cerebrospinal fluid via immunoassays, serves as a biomarker for axonal damage in neurological disorders. Elevated NEFL levels can indicate conditions such as Huntington's disease, Amyotrophic Lateral Sclerosis, and multiple sclerosis.
Recombinant Human NEFL, produced in E. coli, is a single, non-glycosylated polypeptide chain encompassing amino acids 2-543. It includes a 9 amino acid N-terminal His tag, resulting in a total calculated molecular mass of 62.5 kDa.
NEFL is sterile filtered (0.4 µm) and lyophilized from a 0.5 mg/ml solution containing 15 mM Tris and 85 mM Glycine at pH 8.5.
To prepare a working stock solution of approximately 0.5 mg/ml, add deionized water to the lyophilized pellet and allow it to dissolve completely.
Purity exceeds 90.0% as determined by SDS-PAGE analysis.
Neurofilament light polypeptide, NF-L, NEFL, NF68, NFL, 68 kDa neurofilament protein.
MKHHHHHHAS SFSYEPYYST SYKRRYVETP RVHISSVRSG YSTARSAYSS YSAPVSSSLS VRRSYSSSSG SLMPSLENLD LSQVAAISND LKSIRTQEKA QLQDLNDRFA SFIERVHELE QQNKVLEAEL LVLRQKHSEP SRFRALYEQE IRDLRLAAED ATNEKQALQG EREGLEETLR NLQARYEEEV LSREDAEGRL MEARKGADEA ALARAELEKR IDSLMDEISF LKKVHEEEIA ELQAQIQYAQ ISVEMDVTKP DLSAALKDIR AQYEKLAAKN MQNAEEWFKS RFTVLTESAA KNTDAVRAAK DEVSESRRLL KAKTLEIEAC RGMNEALEKQ LQELEDKQNA DISAMQDTIN KLENELRTTK SEMARYLKEY QDLLNVKMAL DIEIAAYRKL LEGEETRLSF TSVGSITSGY SQSSQVFGRS AYGGLQTSSY LMSTRSFPSY YTSHVQEEQI EVEETIEAAK AEEAKDEPPS EGEAEEEEKD KEEAEEEEAA EEEEAAKEES EEAKEEEEGG EGEEGEETKE AEEEEKKVEG AGEEQAAKKK D.
Product Science Overview
NF-L is a 68 kDa protein encoded by the NEFL gene. It consists of 542 amino acids, including a 91 amino acid N-terminal head, a 304 amino acid alpha-helical rod, and a 147 amino acid C-terminal tail . Neurofilaments are essential for maintaining the structural integrity and diameter of axons, which are the long projections of neurons that transmit electrical signals. The proper functioning of neurofilaments is critical for the maintenance of neuronal caliber and the efficient conduction of nerve impulses .
Neurofilament light chain is a biomarker that can be measured in cerebrospinal fluid (CSF) and plasma. It reflects axonal damage in a variety of neurological disorders. Elevated levels of NF-L are associated with diseases such as amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), Alzheimer’s disease, and Huntington’s disease . The detection of NF-L in CSF and blood has become widely used as a biomarker for ongoing axonal compromise, making it a valuable tool for disease monitoring and prognosis .
Recombinant human NF-L is produced using Escherichia coli (E. coli) expression systems. The recombinant protein is typically purified to a high degree of purity, often greater than 95%, and is used in various research applications. It is available in both carrier-free and carrier-containing formulations. The carrier-free version does not contain bovine serum albumin (BSA), which can interfere with certain applications .
Recombinant NF-L is used in a variety of research areas, including the study of neurodegenerative diseases, axonal injury, and the development of diagnostic assays. Methods used for NF-L measurement include sandwich enzyme-linked immunosorbent assay (ELISA), electrochemiluminescence, and high-sensitive single molecule array (SIMOA) . These techniques allow for the precise quantification of NF-L levels in biological samples, aiding in the understanding of disease mechanisms and the development of therapeutic interventions.
