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]
^ abcGRCh38: Ensembl release 89: ENSG00000100285 - Ensembl, May 2017
^ abcGRCm38: 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.
^. 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.
This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.
nefh, neurofilament, heavy, polypeptide, protein, that, humans, encoded, gene, identifiersaliases, cmt2cc, neurofilament, heavy, polypeptide, neurofilament, heavy, neurofilament, heavy, chainexternal, idsomim, 162230, 97309, homologene, 40755, genecards, gene,. Neurofilament heavy polypeptide NEFH is a protein that in humans is encoded by the NEFH gene NEFHIdentifiersAliasesNEFH NFH CMT2CC neurofilament heavy polypeptide neurofilament heavy neurofilament heavy chainExternal IDsOMIM 162230 MGI 97309 HomoloGene 40755 GeneCards NEFHGene location Human Chr Chromosome 22 human 1 Band22q12 2Start29 480 218 bp 1 End29 491 390 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 A1 11 3 12 cMStart4 888 754 bp 2 End4 898 064 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inspinal gangliaponsBrodmann area 23superior vestibular nucleusexternal globus pallidustrigeminal ganglionendothelial cellspermmiddle temporal gyrusinferior olivary nucleusTop expressed inanterior horn of spinal cordfacial motor nucleusmotor neuronpontine nucleimedial vestibular nucleuslateral geniculate nucleusdorsal tegmental nucleusmedial geniculate nucleusmedial dorsal nucleusinferior colliculusMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein 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 cytoskeletonCellular componentneurofilament neurofibrillary tangle myelin sheath axon mitochondrion intermediate filament cytoplasm postsynaptic density cytoskeleton Schaffer collateral CA1 synapse postsynaptic intermediate filament cytoskeletonBiological processaxon 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 organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez4744380684EnsemblENSG00000100285ENSMUSG00000020396UniProtP12036P19246RefSeq mRNA NM 021076NM 010904RefSeq protein NP 066554NP 035034Location UCSC Chr 22 29 48 29 49 MbChr 11 4 89 4 9 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseIt 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 edit 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 nbsp This article on a gene on human chromosome 22 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title NEFH amp oldid 1171429702, wikipedia, wiki, book, books, library,
