NEFL

From Wikipedia, the free encyclopedia

Neurofilament, light polypeptide 68kDa

Identifiers

NEFL; CMT1F; CMT2E; NF-L; NF68; NFL

External IDs

OMIM: 162280 MGI: 97313 HomoloGene: 4487

Gene ontology
Molecular Function:	• structural molecule activity • structural constituent of cytoskeleton • protein binding
Cellular Component:	• intermediate filament • neurofilament • axon
Biological Process:	• intermediate filament cytoskeleton organization and biogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_006158 (mRNA)
NP_006149 (protein)

NM_010910 (mRNA)
NP_035040 (protein)

Location

Chr 8: 24.87 - 24.87 Mb

Chr 14: 67.04 - 67.04 Mb

Pubmed search

[1]

[2]

Neurofilament, light polypeptide 68kDa, also known as NEFL, is a human gene.^[1]

[edit] See also

Neurofilament

[edit] References

^ Entrez Gene: NEFL neurofilament, light polypeptide 68kDa.

[edit] Further reading

Hirokawa N, Takeda S (1998). "Gene targeting studies begin to reveal the function of neurofilament proteins.". J. Cell Biol. 143 (1): 1-4. PMID 9763415.
Beaudet L, Charron G, Julien JP (1992). "Origin of the two mRNA species for the human neurofilament light gene.". Biochem. Cell Biol. 70 (5): 279-84. PMID 1497855.
Frappier T, Stetzkowski-Marden F, Pradel LA (1991). "Interaction domains of neurofilament light chain and brain spectrin.". Biochem. J. 275 ( Pt 2): 521-7. PMID 1902666.
Chin SS, Liem RK (1990). "Expression of rat neurofilament proteins NF-L and NF-M in transfected non-neuronal cells.". Eur. J. Cell Biol. 50 (2): 475-90. PMID 2516804.
Julien JP, Grosveld F, Yazdanbaksh K, et al. (1987). "The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family.". Biochim. Biophys. Acta 909 (1): 10-20. PMID 3034332.
Hurst J, Flavell D, Julien JP, et al. (1987). "The human neurofilament gene (NEFL) is located on the short arm of chromosome 8.". Cytogenet. Cell Genet. 45 (1): 30-2. PMID 3036423.
Frappier T, Regnouf F, Pradel LA (1988). "Binding of brain spectrin to the 70-kDa neurofilament subunit protein.". Eur. J. Biochem. 169 (3): 651-7. PMID 3121319.
Nomata Y, Watanabe T, Wada H (1983). "Highly acidic proteins from human brain: purification and properties of Glu-50 protein.". J. Biochem. 93 (3): 825-31. PMID 6135695.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171-4. PMID 8125298.
Pospelov VA, Pospelova TV, Julien JP (1994). "AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells.". Cell Growth Differ. 5 (2): 187-96. PMID 8180132.
Dong DL, Xu ZS, Chevrier MR, et al. (1993). "Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M.". J. Biol. Chem. 268 (22): 16679-87. PMID 8344946.
Charron G, Guy LG, Bazinet M, Julien JP (1996). "Multiple neuron-specific enhancers in the gene coding for the human neurofilament light chain.". J. Biol. Chem. 270 (51): 30604-10. PMID 8530496.
Mukai H, Toshimori M, Shibata H, et al. (1996). "PKN associates and phosphorylates the head-rod domain of neurofilament protein.". J. Biol. Chem. 271 (16): 9816-22. PMID 8621664.
Rosengren LE, Karlsson JE, Karlsson JO, et al. (1996). "Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF.". J. Neurochem. 67 (5): 2013-8. PMID 8863508.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149-56. PMID 9373149.
Athlan ES, Mushynski WE (1998). "Heterodimeric associations between neuronal intermediate filament proteins.". J. Biol. Chem. 272 (49): 31073-8. PMID 9388258.
Ehlers MD, Fung ET, O'Brien RJ, Huganir RL (1998). "Splice variant-specific interaction of the NMDA receptor subunit NR1 with neuronal intermediate filaments.". J. Neurosci. 18 (2): 720-30. PMID 9425014.
Mersiyanova IV, Perepelov AV, Polyakov AV, et al. (2000). "A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.". Am. J. Hum. Genet. 67 (1): 37-46. PMID 10841809.
De Jonghe P, Mersivanova I, Nelis E, et al. (2001). "Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.". Ann. Neurol. 49 (2): 245-9. PMID 11220745.