Target：NF-H

Fields：Amyotrophic lateral sclerosis;Pathways of neurodegeneration - multiple diseases

Gene Name：NEFH

Protein Name：Neurofilament heavy polypeptide

Human Gene Id：4744

Human Swiss Prot No：P12036

Mouse Swiss Prot No：P19246

Immunogen：The antiserum was produced against synthesized peptide derived from human NF-H. AA range:923-972

Specificity：NF-H Polyclonal Antibody detects endogenous levels of NF-H protein.

Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：NEFH;KIAA0845;NFH;Neurofilament heavy polypeptide;NF-H;200 kDa neurofilament protein;Neurofilament triplet H protein

Molecular Weight(Da)：112kD

Background： Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008],

Function：disease:Defects in NEFH are a cause of susceptibility to amyotrophic lateral sclerosis (ALS) [MIM:105400]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial, involving both genetic and environmental factors.,function:Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.,online information:ALS genetic mutations db,polymorphism:The number of repeats is shown to vary between 29 and 30.,PTM:Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphor

Subcellular Location：Cytoplasm, cytoskeleton . Cell projection, axon .

Expression： Brain,Eye,Testis,