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
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 4,938,754 bp[2] End 4,948,064 bp[2]
RNA expression pattern Bgee Top expressed in spinal ganglia trigeminal ganglion mesencephalon pons prostate middle temporal gyrus Brodmann area 23 inferior olivary nucleus 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 GO:0097483, GO:0097481 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: 4.94 – 4.95 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]