NF-L Mouse mAb (IVD抗体) | Bioss

NEFL

Neurofilament light polypeptide

Interacts with ARHGEF28. Interacts with TRIM2.

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.

Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]. CMT1F is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group 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).
Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]. CMT2E is an autosomal dominant form of Charcot-Marie-Tooth disease type 2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

Belongs to the intermediate filament family.

Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.