Biology:NEFH
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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.[1]
Mutations in the NEFH gene are associated with Charcot-Marie-Tooth disease.[2]
References
- ↑ "NEFH". Genetics Home Reference. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/gene=nefh.
- ↑ "New developments in Charcot-Marie-Tooth neuropathy and related diseases". Current Opinion in Neurology 30 (5): 471–480. October 2017. doi:10.1097/WCO.0000000000000474. PMID 28678038.
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