Synthesized peptide derived from human Neurofilament AA range: 400-543

The antibody can specifically recognize human Neurofilament protein, especilaly NF-L protein.

NEFL NF68 NFL

Neurofilament light polypeptide;NF-L;Neurofilament triplet L protein;68 kDa neurofilament protein;

Neurofilament light polypeptide ;
NF-L ;
68 kDa neurofilament protein ;
Neurofilament triplet L protein ;

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] ,

Caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. ,Disease: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) . ,Disease: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. ,Domain:The extra mass and high charge density that distinguish the neurofilament proteins from all other intermediate filament proteins are due to the tailpiece extensions. This region may form a charged scaffolding structure suitable for interaction with other neuronal components or ions. ,Function:Neurofilaments usually contain three intermediate filament proteins: L , M , and H which are involved in the maintenance of neuronal caliber. ,miscellaneous:NF-L is the most abundant of the three neurofilament proteins and , as the other nonepithelial intermediate filament proteins , it can form homopolymeric 10-nm filaments. ,PTM:O-glycosylated. ,similarity:Belongs to the intermediate filament family. ,subunit:Interacts with RGNEF. ,

Cytoplasmic

>>Amyotrophic lateral sclerosis ;
>>Pathways of neurodegeneration - multiple diseases