NFL (protein)

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NEFL
Identifiers
Aliases NEFL, CMT1F, CMT2E, NF-L, NF68, NFL, PPP1R110, neurofilament, light polypeptide, neurofilament light, CMTDIG
External IDs MGI: 97313 HomoloGene: 4487 GeneCards: NEFL
Gene location (Human)
Chromosome 8 (human)
Chr. Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for NEFL
Genomic location for NEFL
Band 8p21.2 Start 24,950,955 bp[1]
End 24,957,110 bp[1]
RNA expression pattern
PBB GE NEFL 221801 x at fs.png

PBB GE NEFL 221805 at fs.png

PBB GE NEFL 221916 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Neurofilament light polypeptide is a protein that in humans is encoded by the NEFL gene.[5][6]

It is associated with Charcot–Marie–Tooth disease 1F and 2E. The Neurofilament light subunit can be measured with immunoassays in cerebrospinal fluid and plasma and reflects axonal damage in neurological disorders.[7] It is a useful maker for disease monitoring in Amyotrophic Lateral Sclerosis,[8] multiple sclerosis[9] and more recently Huntington's disease.[10]

See also

Interactions

NEFL has been shown to interact with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000277586 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022055 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ "Entrez Gene: NEFL neurofilament, light polypeptide 68kDa".
  7. ^ Jonsson, M.; Zetterberg, H.; Van Straaten, E.; Lind, K.; Syversen, S.; Edman, Å.; Blennow, K.; Rosengren, L.; Pantoni, L.; Inzitari, D.; Wallin, A. (March 2010). "Cerebrospinal fluid biomarkers of white matter lesions - cross-sectional results from the LADIS study". European Journal of Neurology. 17 (3): 377–382. doi:10.1111/j.1468-1331.2009.02808.x. PMID 19845747.
  8. ^ Rosengren, LE; Karlsson, JE; Karlsson, JO; Persson, LI; Wikkelsø, C (November 1996). "Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF". Journal of Neurochemistry. 67 (5): 2013–8. doi:10.1046/j.1471-4159.1996.67052013.x. PMID 8863508.
  9. ^ Teunissen, CE; Iacobaeus, E; Khademi, M; Brundin, L; Norgren, N; Koel-Simmelink, MJ; Schepens, M; Bouwman, F; Twaalfhoven, HA; Blom, HJ; Jakobs, C; Dijkstra, CD (14 April 2009). "Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis". Neurology. 72 (15): 1322–9. doi:10.1212/wnl.0b013e3181a0fe3f. PMID 19365053.
  10. ^ Niemelä, Valter; Landtblom, Anne-Marie; Blennow, Kaj; Sundblom, Jimmy; Blum, David (27 February 2017). "Tau or neurofilament light—Which is the more suitable biomarker for Huntington's disease?". PLOS ONE. 12 (2): e0172762. doi:10.1371/journal.pone.0172762.
  11. ^ Frappier T, Stetzkowski-Marden F, Pradel LA (Apr 1991). "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. 275 (2): 521–7. doi:10.1042/bj2750521. PMC 1150082. PMID 1902666.
  12. ^ 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.
  13. ^ 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

External links

  • Bird, Thomas D (2013-11-07). Charcot-Marie-Tooth Neuropathy Type 1. NBK1205. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. Check date values in: |year= (help)
  • Bird, Thomas D (30 January 2014). Charcot-Marie-Tooth Neuropathy Type 2. PMID 20301462. NBK1285. In GeneReviews
  • De Jonghe, Peter; Jordanova, Albena K (2011-10-27). Charcot-Marie-Tooth Neuropathy Type 2E/1F. NBK1187. In GeneReviews
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