NEFH

Neurofilament, heavy polypeptide (NEFH) is a protein that in humans is encoded by the NEFH gene.

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)[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 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 Species Human Mouse Entrez 4744 380684 Ensembl ENSG00000100285 ENSMUSG00000020396 UniProt P12036 P19246 RefSeq (mRNA) NM_021076 NM_010904 RefSeq (protein) NP_066554 NP_035034 Location (UCSC) Chr 22: 29.48 – 29.49 Mb Chr 11: 4.89 – 4.9 Mb PubMed search [3] [4]
Wikidata
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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]