neurofilament light polypeptide; NF-L; neurofilament triplet L protein; 68 kD neurofilament protein (NEFL, NF68, NFL)
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Function
- required subunit for neurofilament formation
- can form neurofilaments in association with neurofilament M or neurofilament H[3]
- role in the maintenance of neuronal caliber
- interacts with RGNEF (putative)
- can form homopolymeric 10-nm filaments
Structure
- O-glycosylated (putative)
- belongs to the intermediate filament family
Pathology
- defects in NEFL are the cause of
Laboratory
- neurofilament light chain in serum significantly higher in patients with MRI-confirmed subclinical multiple sclerosis disease activity[8]
- neurofilament light chain in CSF levels are associated with neurodegenerative disease & cognitive decline[9]
Notes
- NEFL is the most abundant of the three neurofilament proteins
More general terms
References
- ↑ Alperts et al Molecular Biology of the Cell, Garland Publishing, New York, NY 1989 pg 662
- ↑ Wang KK et al Calmodulin-binding proteins as calpain substrates. Biochem J 262:693 1989 PMID: https://www.ncbi.nlm.nih.gov/pubmed/2556106
- ↑ 3.0 3.1 Cairns NJ, Lee VM, Trojanowski JQ. The cytoskeleton in neurodegenerative diseases. J Pathol. 2004 Nov;204(4):438-49. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/15495240
- ↑ UniProt http://www.uniprot.org/uniprot/P07196.html
- ↑ Inherited peripheral neuropathies mutation db http://www.molgen.ua.ac.be/CMTmutations/
- ↑ Human intermediate Filament mutation Database http://www.interfil.org
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=NEFL
- ↑ 8.0 8.1 Jenkins K Serum Biomarker May Predict Relapse in MS High NF-L levels could identify subclinical disease activity. MedPage Today. Nov 30, 2017
Varhaug KN, Barro C, Bjornevik K et al Neurofilament light chain predicts disease activity in relapsing-remitting MS Neurol. Published Online Nov 29, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29209636 <Internet> http://nn.neurology.org/content/5/1/e422 - ↑ 9.0 9.1 Olsson B, Portelius E, Cullen NC et al Association of Cerebrospinal Fluid Neurofilament Light Protein Levels With Cognition in Patients With Dementia, Motor Neuron Disease, and Movement Disorders. JAMA Neurol. 2018 Dec 3. PMID: https://www.ncbi.nlm.nih.gov/pubmed/30508027 https://jamanetwork.com/journals/jamaneurology/fullarticle/2716834
Database
- UniProt: http://www.uniprot.org/uniprot/P07196.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4747
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4747
- OMIM: https://mirror.omim.org/entry/162280
- OMIM: https://mirror.omim.org/entry/607684
- OMIM: https://mirror.omim.org/entry/607734