NP_006149.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
neurofilament light polypeptide
NCBI Official Synonym Full Names
neurofilament, light polypeptide
NCBI Protein Information
neurofilament light polypeptide; neurofilament subunit NF-L; neurofilament triplet L protein; neurofilament protein, light chain; neurofilament, light polypeptide 68kDa; light molecular weight neurofilament protein
UniProt Protein Name
Neurofilament light polypeptide
UniProt Synonym Protein Names
68 kDa neurofilament protein; Neurofilament triplet L protein
UniProt Synonym Gene Names
UniProt Entry Name
NFL_HUMAN
NCBI Summary for NEFL
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. [provided by RefSeq, Oct 2008]
UniProt Comments for NEFL
NFL: one of the three (L, M, and H) intermediate filament proteins that form neurofilaments. Neurofilaments are involved in the maintenance of neuronal caliber. NF-L is the most abundant of the three neurofilament proteins. Defects cause Charcot-Marie-Tooth disease type 1F (CMT1F).
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 8p21
Cellular Component: TSC1-TSC2 complex; growth cone; axon; cytoplasm; neurofilament; cytosol
Molecular Function: protein binding, bridging; protein C-terminus binding; protein domain specific binding; identical protein binding; protein binding; phospholipase binding; structural constituent of cytoskeleton
Biological Process: protein polymerization; response to peptide hormone stimulus; neurofilament bundle assembly; response to toxin; intermediate filament organization; microtubule cytoskeleton organization and biogenesis; retrograde axon cargo transport; axon regeneration in the peripheral nervous system; synaptic transmission; axon transport of mitochondrion; regulation of axon diameter; positive regulation of axonogenesis; negative regulation of neuron apoptosis; anterograde axon cargo transport; locomotion; neuromuscular process controlling balance; neurite morphogenesis; response to corticosterone stimulus
Disease: Charcot-marie-tooth Disease, Axonal, Type 2e; Charcot-marie-tooth Disease, Demyelinating, Type 1f
Research Articles on NEFL
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Products associated with anti-NEFL antibody
Pathways associated with anti-NEFL antibody
Diseases associated with anti-NEFL antibody
Organs/Tissues associated with anti-NEFL antibody
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