NEFM
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Neurofilament medium polypeptide (NF-M) is a protein that in humans is encoded by the NEFM gene.{{cite journal | vauthors = Ding Y, Reed DR, Baltazar MC, Price RA | title = RFLP for BgI II at the human neurofilament medium chain (NEF3) gene locus | journal = Nucleic Acids Res | volume = 20 | issue = 6 | pages = 1429 |date=May 1992 | pmid = 1348579 | pmc = 312205 | doi =10.1093/nar/20.6.1429-a }}{{cite web | title = Entrez Gene: NEFM neurofilament, medium polypeptide 150kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4741}}
Function
Neurofilaments are type IV intermediate filament heteropolymers composed of light (NEFL), medium (this protein), and heavy (NEFH) chains. Neurofilaments comprise the exoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage.
References
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Further reading
{{refbegin | 2}}
- {{cite journal | vauthors=Xu ZS, Liu WS, Willard MB |title=Identification of six phosphorylation sites in the COOH-terminal tail region of the rat neurofilament protein M. |journal=J. Biol. Chem. |volume=267 |issue= 7 |pages= 4467–71 |year= 1992 |doi=10.1016/S0021-9258(18)42856-6 |pmid= 1537832 |doi-access=free }}
- {{cite journal |vauthors=Lee VM, Otvos L, Carden MJ, etal |title=Identification of the major multiphosphorylation site in mammalian neurofilaments. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 6 |pages= 1998–2002 |year= 1988 |pmid= 2450354 |doi=10.1073/pnas.85.6.1998 | pmc=279909 |bibcode=1988PNAS...85.1998L |doi-access=free }}
- {{cite journal | vauthors=Chin TK, Harding SE, Eagles PA |title=Characterization of two proteolytically derived soluble polypeptides from the neurofilament triplet components NFM and NFH. |journal=Biochem. J. |volume=264 |issue= 1 |pages= 53–60 |year= 1990 |pmid= 2557834 |doi= 10.1042/bj2640053| pmc=1133546 }}
- {{cite journal |vauthors=Myers MW, Lazzarini RA, Lee VM, etal |title=The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. |journal=EMBO J. |volume=6 |issue= 6 |pages= 1617–26 |year= 1987 |pmid= 3608989 |doi= 10.1002/j.1460-2075.1987.tb02409.x| pmc=553533 }}
- {{cite journal |vauthors=Tu PH, Elder G, Lazzarini RA, etal |title=Overexpression of the human NFM subunit in transgenic mice modifies the level of endogenous NFL and the phosphorylation state of NFH subunits. |journal=J. Cell Biol. |volume=129 |issue= 6 |pages= 1629–40 |year= 1995 |pmid= 7790359 |doi=10.1083/jcb.129.6.1629 | pmc=2291190 }}
- {{cite journal |vauthors=Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, etal |title=Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. |journal=Genomics |volume=23 |issue= 1 |pages= 42–50 |year= 1995 |pmid= 7829101 |doi= 10.1006/geno.1994.1457 |hdl= 10669/15162 |hdl-access= free }}
- {{cite journal |vauthors=Dong DL, Xu ZS, Chevrier MR, etal |title=Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M. |journal=J. Biol. Chem. |volume=268 |issue= 22 |pages= 16679–87 |year= 1993 |doi=10.1016/S0021-9258(19)85471-6 |pmid= 8344946 |doi-access=free }}
- {{cite journal |vauthors=Fleming LM, Weisgraber KH, Strittmatter WJ, etal |title=Differential binding of apolipoprotein E isoforms to tau and other cytoskeletal proteins. |journal=Exp. Neurol. |volume=138 |issue= 2 |pages= 252–60 |year= 1996 |pmid= 8620924 |doi= 10.1006/exnr.1996.0064 |s2cid=46328348 |doi-access=free }}
- {{cite journal | vauthors=Dong DL, Xu ZS, Hart GW, Cleveland DW |title=Cytoplasmic O-GlcNAc modification of the head domain and the KSP repeat motif of the neurofilament protein neurofilament-H. |journal=J. Biol. Chem. |volume=271 |issue= 34 |pages= 20845–52 |year= 1996 |pmid= 8702840 |doi=10.1074/jbc.271.34.20845 |doi-access=free }}
- {{cite journal | vauthors=Veeranna GJ, Shetty KT, Takahashi M|title=Cdk5 and MAPK are associated with complexes of cytoskeletal proteins in rat brain. |journal=Brain Res. Mol. Brain Res. |volume=76 |issue= 2 |pages= 229–36 |year= 2000 |pmid= 10762698 |doi=10.1016/S0169-328X(00)00003-6 |display-authors=etal}}
- {{cite journal |vauthors=Taylor JP, Sater R, French J, etal |title=Transcription of intermediate filament genes is enhanced in focal cortical dysplasia. |journal=Acta Neuropathol. |volume=102 |issue= 2 |pages= 141–8 |year= 2002 |pmid= 11563628 |doi= 10.1007/s004010000348 |s2cid=23648593 }}
- {{cite journal | vauthors=Wang Y, Wang Q, Wang J |title=[Detection of level and mutation of neurofilament mRNA in Alzheimer's disease] |journal=Zhonghua Yi Xue Za Zhi |volume=82 |issue= 8 |pages= 519–22 |year= 2002 |pmid= 12133495 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Bhaskar K, Shareef MM, Sharma VM, etal |title=Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins. |journal=Neurochem. Int. |volume=44 |issue= 1 |pages= 35–44 |year= 2003 |pmid= 12963086 |doi=10.1016/S0197-0186(03)00099-8 |s2cid=23783141 }}
- {{cite journal |vauthors=Krüger R, Fischer C, Schulte T, etal |title=Mutation analysis of the neurofilament M gene in Parkinson's disease. |journal=Neurosci. Lett. |volume=351 |issue= 2 |pages= 125–9 |year= 2004 |pmid= 14583397 |doi=10.1016/S0304-3940(03)00903-0 |s2cid=23425379 }}
- {{cite journal |vauthors=Garcia ML, Lobsiger CS, Shah SB, etal |title=NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth. |journal=J. Cell Biol. |volume=163 |issue= 5 |pages= 1011–20 |year= 2004 |pmid= 14662745 |doi= 10.1083/jcb.200308159 | pmc=2173620 }}
- {{cite journal | vauthors=Perez-Olle R, Lopez-Toledano MA, Liem RK |title=The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants. |journal=J. Neuropathol. Exp. Neurol. |volume=63 |issue= 7 |pages= 759–74 |year= 2004 |pmid= 15290901 |doi= 10.1093/jnen/63.7.759|doi-access=free }}
- {{cite journal |vauthors=Suzuki Y, Yamashita R, Shirota M, etal |title=Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711–8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604 | pmc=515316 }}
- {{cite journal |vauthors=DeGiorgis JA, Jaffe H, Moreira JE, etal |title=Phosphoproteomic analysis of synaptosomes from human cerebral cortex. |journal=J. Proteome Res. |volume=4 |issue= 2 |pages= 306–15 |year= 2005 |pmid= 15822905 |doi= 10.1021/pr0498436 }}
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{{Cytoskeletal proteins}}
{{NLM content}}
{{gene-8-stub}}