NEFL

From Wikipedia, the free encyclopedia
Jump to: navigation, search
For the semi-professional football league NEFL, see New England Football League.
Neurofilament, light polypeptide
Identifiers
Symbols NEFL ; CMT1F; CMT2E; 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 P08551
RefSeq (mRNA) NM_006158 NM_010910
RefSeq (protein) NP_006149 NP_035040
Location (UCSC) Chr 8:
24.81 – 24.81 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]

Interactions[edit]

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

References[edit]

  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". 
  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. 
  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[edit]

External links[edit]