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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| NEFL-20-RE | 20 (40 μL) | 200 μL |  |
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| NEFL-20-OR | 20 (40 μL) | 200 μL |  |
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| NEFL-20-GO | 20 (40 μL) | 200 μL |  |
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| NEFL-20-GR | 20 (40 μL) | 200 μL |  |
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| NEFL-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : NEFL
Gene Name : Neurofilament light
Chromosome : CHR 8: 249,568,68-249,509,54
Locus : 8p21.2
Alt. Genes : MKRN3-AS1
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