NEFH

NEFH
Identifiers
Aliases	NEFH, NFH, CMT2CC, neurofilament, heavy polypeptide, neurofilament heavy, neurofilament heavy chain
External IDs	OMIM: 162230; MGI: 97309; HomoloGene: 40755; GeneCards: NEFH; OMA:NEFH - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	29,491,390 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	4,898,064 bp
RNA expression pattern
	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
	n/a
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
	4744
	380684
	ENSG00000100285
	ENSMUSG00000020396
	P12036
	P19246
	NM_021076
	NM_010904
	NP_066554
	NP_035034
	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]

References

^ ^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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100285 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020396 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "NEFH". Genetics Home Reference. U.S. National Library of Medicine. Archived from the original on 1 February 2009.

[Pareyson_2017-6] 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.

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