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]

Neurofilament Light

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 (By similarity).

Anterograde axonal transport Source: UniProtKB
Axonal transport of mitochondrion Source: UniProtKB
Cerebral cortex development Source: Ensembl
Hippocampus development Source: Ensembl
Intermediate filament organization Source: UniProtKB
Intermediate filament polymerization or depolymerization Source: Ensembl
Locomotion Source: Ensembl
Microtubule cytoskeleton organization Source: Ensembl
Negative regulation of neuron apoptotic process Source: Ensembl
Neurofilament bundle assembly Source: UniProtKB
Neurofilament cytoskeleton organization Source: Ensembl
Neuromuscular process controlling balance Source: Ensembl
Neuron projection morphogenesis Source: Ensembl
Peripheral nervous system axon regeneration Source: Ensembl
Positive regulation of axonogenesis Source: Ensembl
Protein polymerization Source: Ensembl
Regulation of axon diameter Source: Ensembl
Response to acrylamide Source: Ensembl
Response to corticosterone Source: Ensembl
Response to peptide hormone Source: Ensembl
Response to sodium arsenite Source: Ensembl
Response to toxic substance Source: Ensembl
Retrograde axonal transport Source: UniProtKB
Spinal cord development Source: Ensembl
Synapse maturation Source: Ensembl

Cytoskeleton
Other locations
axon

Charcot-Marie-Tooth disease 1F (CMT1F):
A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years).
Charcot-Marie-Tooth disease 2E (CMT2E):
A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Charcot-Marie-Tooth disease, dominant intermediate G (CMTDIG):
An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment.

O-glycosylated.
Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.
Ubiquitinated in the presence of TRIM2 and UBE2D1.