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 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 22q12.2
Cellular Component:  axon; cytoplasm; cytoskeleton; neurofibrillary tangle; neurofilament; postsynaptic density; postsynaptic intermediate filament cytoskeleton; Schaffer collateral - CA1 synapse
Molecular Function:  dynein complex binding; kinesin binding; microtubule binding; protein binding, bridging; protein kinase binding; structural constituent of cytoskeleton; structural constituent of postsynaptic intermediate filament cytoskeleton
Biological Process:  axon development; axonogenesis; cell projection assembly; cellular response to leukemia inhibitory factor; microtubule cytoskeleton organization; neurofilament bundle assembly; neurofilament cytoskeleton organization; peripheral nervous system neuron axonogenesis; postsynaptic intermediate filament cytoskeleton organization; regulation of organelle transport along microtubule
Disease: Amyotrophic Lateral Sclerosis 1; Charcot-marie-tooth Disease, Axonal, Type 2cc
Reference #:  P12036 (UniProtKB)
Alt. Names/Synonyms: 200 kDa neurofilament protein; CMT2CC; KIAA0845; NEFH; neurofilament heavy; 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, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  InnateDB