NEFH | |||||||||||||||||||||||||
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Aliases | NEFH, NFH, CMT2CC, neurofilament, heavy polypeptide, neurofilament heavy, neurofilament heavy chain | ||||||||||||||||||||||||
External IDs | OMIM: 162230 MGI: 97309 HomoloGene: 40755 GeneCards: NEFH | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
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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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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 2000.
- ^ 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.