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Neurofilament, light polypeptide
Symbols NEFL ; CMT1F; CMT2E; NF-L; NF68; NFL; PPP1R110
External IDs OMIM162280 MGI97313 HomoloGene4487 GeneCards: NEFL Gene
RNA expression pattern
PBB GE NEFL 221805 at tn.png
PBB GE NEFL 221801 x at tn.png
PBB GE NEFL 221916 at tn.png
More reference expression data
Species Human Mouse
Entrez 4747 18039
Ensembl ENSG00000277586 ENSMUSG00000022055
UniProt P07196 P08551
RefSeq (mRNA) NM_006158 NM_010910
RefSeq (protein) NP_006149 NP_035040
Location (UCSC) Chr 8:
24.95 – 24.96 Mb
Chr 14:
68.08 – 68.09 Mb
PubMed search [1] [2]

Neurofilament light polypeptide is a protein that in humans is encoded by the NEFL gene.[1][2]

It is associated with Charcot–Marie–Tooth disease 1F and 2E.

See also[edit]


NEFL has been shown to interact with:


  1. ^ Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN (Jul 2007). "Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene". Arch Neurol 64 (7): 966–70. doi:10.1001/archneur.64.7.966. PMID 17620486. 
  2. ^ "Entrez Gene: NEFL neurofilament, light polypeptide 68kDa". 
  3. ^ Frappier T, Stetzkowski-Marden F, Pradel LA (Apr 1991). "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. 275 ( Pt 2): 521–7. PMC 1150082. PMID 1902666. 
  4. ^ Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y (Apr 1996). "PKN associates and phosphorylates the head-rod domain of neurofilament protein". J. Biol. Chem. 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. PMID 8621664. 
  5. ^ Haddad LA, Smith N, Bowser M, Niida Y, Murthy V, Gonzalez-Agosti C, Ramesh V (Nov 2002). "The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton". J. Biol. Chem. 277 (46): 44180–6. doi:10.1074/jbc.M207211200. PMID 12226091. 

Further reading[edit]

External links[edit]