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NFH 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. Belongs to the intermediate filament family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 22q12.2
Cellular Component: axon; cytoplasm
Molecular Function: kinesin binding; microtubule binding; protein binding, bridging; protein kinase binding; structural constituent of cytoskeleton; structural molecule activity
Biological Process: axonogenesis; cell projection biogenesis; neurofilament bundle assembly
Disease: Amyotrophic Lateral Sclerosis 1; Charcot-marie-tooth Disease, Axonal, Type 2cc
Reference #:  P12036 (UniProtKB)
Alt. Names/Synonyms: 200 kDa neurofilament protein; KIAA0845; NEFH; Neurofilament heavy polypeptide; Neurofilament triplet H protein; neurofilament, heavy polypeptide; neurofilament, heavy polypeptide 200kDa; NF-H; NFH
Gene Symbols: NEFH
Molecular weight: 112,479 Da
Basal Isoelectric point: 5.99  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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