NEFL


NEFL
Neurofilament, light polypeptide
Identifiers
Symbols NEFL; CMT1F; CMT2E; FLJ53642; NF-L; NF68; NFL
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
Orthologs
Species Human Mouse
Entrez 4747 18039
Ensembl ENSG00000256228 ENSMUSG00000022055
UniProt P07196 Q05DD2
RefSeq (mRNA) NM_006158 NM_010910.1
RefSeq (protein) NP_006149 NP_035040.1
Location (UCSC) Chr 8:
24.81 – 24.81 Mb
Chr 14:
68.7 – 68.71 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.

Contents

See also

Interactions

NEFL has been shown to interact with MAP2,[3] Protein kinase N1[4] and TSC1.[5]

References

  1. ^ Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Loscher 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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4747. 
  3. ^ Frappier, T; Stetzkowski-Marden F, Pradel L A (Apr. 1991). "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. (ENGLAND) 275 ( Pt 2) (Pt 2): 521–7. ISSN 0264-6021. PMC 1150082. PMID 1902666. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1150082. 
  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. (UNITED STATES) 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. ISSN 0021-9258. PMID 8621664. 
  5. ^ Haddad, Luciana A; Smith Nicole, Bowser Mark, Niida Yo, Murthy Vanishree, Gonzalez-Agosti Charo, Ramesh Vijaya (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. (United States) 277 (46): 44180–6. doi:10.1074/jbc.M207211200. ISSN 0021-9258. PMID 12226091. 

Further reading

External links




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