| Protein Name | neurofilament, heavy polypeptide |
|---|---|
| Organism | Mus musculus |
| Gene ID | 380684 |
| Gene Symbol | Nefh |
| UniProt | P19246 (NFH_MOUSE), Q80TQ3 (Q80TQ3_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
61
Total Number of Articles : 56 |
Description |
neurofilament, heavy polypeptide |
| Gene Summary |
A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in axon development and postsynaptic modulation of chemical synaptic transmission. Acts upstream of or within cellular response to leukemia inhibitory factor; cytoskeleton organization; and peripheral nervous system neuron axonogenesis. Located in axon; neurofilament; and postsynaptic density. Is active in Schaffer collateral - CA1 synapse and postsynaptic intermediate filament cytoskeleton. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Orthologous to human NEFH (neurofilament heavy chain). [provided by Alliance of Genome Resources, Jul 2025] |
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| Properties | |