|
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®
|
