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NEFH

From Wikipedia, the free encyclopedia
NEFH
Identifiers
AliasesNEFH, NFH, CMT2CC, neurofilament, heavy polypeptide, neurofilament heavy, neurofilament heavy chain
External IDsOMIM: 162230; MGI: 97309; HomoloGene: 40755; GeneCards: NEFH; OMA:NEFH - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021076

NM_010904

RefSeq (protein)

NP_066554

NP_035034

Location (UCSC)Chr 22: 29.48 – 29.49 MbChr 11: 4.89 – 4.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100285Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020396Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "NEFH". Genetics Home Reference. U.S. National Library of Medicine. Archived from the original on 1 February 2009.
  6. ^ 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.