Nefh

Short description: Protein-coding gene in the species Homo sapiens

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.

0.00

(0 votes)

Original source: https://en.wikipedia.org/wiki/NEFH. Read more

[1] "NEFH". Genetics Home Reference. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/gene=nefh.

[Pareyson_2017-2] "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.