NP_066554.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
neurofilament heavy polypeptide
NCBI Official Synonym Full Names
neurofilament, heavy polypeptide
NCBI Official Synonym Symbols
NCBI Protein Information
neurofilament heavy polypeptide; NF-H; 200 kDa neurofilament protein; neurofilament triplet H protein; neurofilament, heavy polypeptide 200kDa
UniProt Protein Name
Neurofilament heavy polypeptide
UniProt Synonym Protein Names
200 kDa neurofilament protein; Neurofilament triplet H protein
UniProt Synonym Gene Names
UniProt Entry Name
NFH_HUMAN
NCBI Summary for NEFH
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]
UniProt Comments for NEFH
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.
Post-translational modification: There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber. Ref.7Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization. Ref.7
Polymorphism: The number of repeats is shown to vary between 29 and 30.
Involvement in disease: Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.8
Sequence similarities: Belongs to the intermediate filament family.
Sequence caution: The sequence BAA74868.2 differs from that shown. Reason: Erroneous initiation. The sequence BAG63896.1 differs from that shown. Reason: Erroneous initiation.
Product References and Citations for anti-NEFH antibody
• Harris, J., Ayyub, C. and Shaw G. (1991) A molecular dissection of the carboxyterminal tails of the major neurofilament subunits NF-M and NF-H. J Neurosci Res 30:47-62. • Mendonca DM, Chimelli L, Martinez AM. (2005) Quantitative evidence for neurofilament heavy subunit aggregation in motor neurons of spinal cords of patients with amyotrophic lateral sclerosis. Braz J Med Biol Res. 38(6):925-933 • Hu YY, He SS, Wang XC, Duan QH, Khatoon S, Igbal K, Grundke-Igbal I, Wang JZ (2002) Elevated levels of phosphorylated neurofilament proteins in cerebrospinal fluid of Alzheimer disease patients. Neurosci Lett 320(3):156-60.
Research Articles on NEFH
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Products associated with anti-NEFH antibody
Pathways associated with anti-NEFH antibody
Diseases associated with anti-NEFH antibody
Organs/Tissues associated with anti-NEFH antibody
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