基因名称(Gene Name)
NEFL NF68 NFL
免疫原
Synthesized peptide derived from human Neurofilament
特异性
The antibody can specifically recognize human Neurofilament protein, especilaly NF-L protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.57% sodium azide.
来源
Mouse, Monoclonal/IgG2b, kappa
稀释比例
IHC-p 1:100-500, WB 1:200-1000, IF 1:100-500
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
其他名称
Neurofilament light polypeptide (NF-L;68 kDa neurofilament protein;Neurofilament triplet L protein)
背景
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],
功能
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 charac
