Protein-coding gene in the species Homo sapiens
NEFH Identifiers Aliases NEFH , NFH, CMT2CC, neurofilament, heavy polypeptide, neurofilament heavy, neurofilament heavy chainExternal IDs OMIM: 162230; MGI: 97309; HomoloGene: 40755; GeneCards: NEFH; OMA:NEFH - orthologs Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q12.2 Start 29,480,218 bp[1] End 29,491,390 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 A1|11 3.12 cM Start 4,888,754 bp[2] End 4,898,064 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spinal ganglia pons lateral nuclear group of thalamus Brodmann area 23 Pars compacta pars reticulata superior vestibular nucleus external globus pallidus trigeminal ganglion endothelial cell
Top expressed in anterior horn of spinal cord facial motor nucleus motor neuron pontine nuclei deep cerebellar nuclei medial vestibular nucleus lateral geniculate nucleus dorsal tegmental nucleus medial geniculate nucleus central gray substance of midbrain
More reference expression data
BioGPS
Gene ontology Molecular function
protein-macromolecule adaptor activity
microtubule binding
structural molecule activity
structural constituent of cytoskeleton
kinesin binding
protein kinase binding
dynein complex binding
structural constituent of postsynaptic intermediate filament cytoskeleton
Cellular component
neurofilament
neurofibrillary tangle
myelin sheath
axon
mitochondrion
intermediate filament
cytoplasm
postsynaptic density
cytoskeleton
Schaffer collateral - CA1 synapse
postsynaptic intermediate filament cytoskeleton
Biological process
axon development
intermediate filament bundle assembly
axonogenesis
neurofilament bundle assembly
cell projection assembly
regulation of organelle transport along microtubule
intermediate filament cytoskeleton organization
peripheral nervous system neuron axonogenesis
neurofilament cytoskeleton organization
microtubule cytoskeleton organization
cellular response to leukemia inhibitory factor
postsynaptic intermediate filament cytoskeleton organization
Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Location (UCSC) Chr 22: 29.48 – 29.49 Mb Chr 11: 4.89 – 4.9 Mb PubMed search [3] [4]
Wikidata View/Edit Human View/Edit Mouse
Neurofilament, heavy polypeptide (NEFH) is a protein that in humans is encoded by the NEFH gene.
It is the gene for a heavy protein subunit that is combined with medium and light subunits to make neurofilaments, which form the framework for nerve cells.[5]
Mutations in the NEFH gene are associated with Charcot-Marie-Tooth disease.[6]
^ a b c GRCh38: Ensembl release 89: ENSG00000100285 – Ensembl, May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020396 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "NEFH". Genetics Home Reference . U.S. National Library of Medicine. Archived from the original on 1 February 2009.
^ Pareyson D, Saveri P, Pisciotta C (October 2017). "New developments in Charcot-Marie-Tooth neuropathy and related diseases". Current Opinion in Neurology . 30 (5): 471–480. doi:10.1097/WCO.0000000000000474. PMID 28678038. S2CID 4970558.
Last Update: 2023-08-21T01:53:07Z
Neurofilament, heavy polypeptide (NEFH ) is a protein that in humans is encoded by the NEFH gene. It is the gene for a heavy protein subunit that is combined...
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Last Update: 2024-06-23T10:31:28Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 3016
Last Update: 2024-04-20T07:37:29Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 2154
Last Update: 2024-06-02T00:07:56Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2024-02-22T06:58:08Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2024-06-19T14:10:47Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2024-06-14T22:55:56Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2023-09-27T06:28:26Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2024-04-29T01:55:48Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2024-05-27T06:34:30Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2024-04-26T06:22:51Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 6277
Last Update: 2023-10-15T18:04:10Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2024-06-15T17:16:37Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 2785
Last Update: 2024-04-25T00:04:14Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 4235
Last Update: 2024-06-15T05:32:19Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 3393
Last Update: 2024-04-03T19:42:49Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 2529
Last Update: 2024-04-19T20:38:51Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 631
Last Update: 2024-06-07T15:40:27Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2024-05-06T01:48:50Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
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Last Update: 2023-09-10T18:54:03Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 73
Last Update: 2023-08-31T18:37:41Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 346
Last Update: 2024-05-10T19:26:43Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 6192
Last Update: 2024-05-10T22:45:07Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 2464
Last Update: 2023-02-16T07:57:59Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 195
Last Update: 2023-12-01T01:40:12Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 202
Last Update: 2024-03-10T09:37:14Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 779
Last Update: 2024-01-31T13:06:08Z
Cytokeratin) Type 3 Desmin GFAP Peripherin Vimentin Type 4 Internexin Nestin Neurofilament NEFL NEFM NEFH Synemin Syncoilin Type 5 Nuclear lamins: A/C B1 B2...
Word Count : 2198