Biology:NEFM
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Neurofilament medium polypeptide (NF-M) is a protein that in humans is encoded by the NEFM gene.[1][2]
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.[2]
References
- ↑ "RFLP for BgI II at the human neurofilament medium chain (NEF3) gene locus". Nucleic Acids Res 20 (6): 1429. May 1992. doi:10.1093/nar/20.6.1429-a. PMID 1348579.
- ↑ 2.0 2.1 "Entrez Gene: NEFM neurofilament, medium polypeptide 150kDa". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4741.
Further reading
- "Identification of six phosphorylation sites in the COOH-terminal tail region of the rat neurofilament protein M.". J. Biol. Chem. 267 (7): 4467–71. 1992. doi:10.1016/S0021-9258(18)42856-6. PMID 1537832.
- "Identification of the major multiphosphorylation site in mammalian neurofilaments.". Proc. Natl. Acad. Sci. U.S.A. 85 (6): 1998–2002. 1988. doi:10.1073/pnas.85.6.1998. PMID 2450354. Bibcode: 1988PNAS...85.1998L.
- "Characterization of two proteolytically derived soluble polypeptides from the neurofilament triplet components NFM and NFH.". Biochem. J. 264 (1): 53–60. 1990. doi:10.1042/bj2640053. PMID 2557834.
- "The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family.". EMBO J. 6 (6): 1617–26. 1987. doi:10.1002/j.1460-2075.1987.tb02409.x. PMID 3608989.
- "Overexpression of the human NFM subunit in transgenic mice modifies the level of endogenous NFL and the phosphorylation state of NFH subunits.". J. Cell Biol. 129 (6): 1629–40. 1995. doi:10.1083/jcb.129.6.1629. PMID 7790359.
- "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.". Genomics 23 (1): 42–50. 1995. doi:10.1006/geno.1994.1457. PMID 7829101.
- "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. 1993. doi:10.1016/S0021-9258(19)85471-6. PMID 8344946.
- "Differential binding of apolipoprotein E isoforms to tau and other cytoskeletal proteins.". Exp. Neurol. 138 (2): 252–60. 1996. doi:10.1006/exnr.1996.0064. PMID 8620924.
- "Cytoplasmic O-GlcNAc modification of the head domain and the KSP repeat motif of the neurofilament protein neurofilament-H.". J. Biol. Chem. 271 (34): 20845–52. 1996. doi:10.1074/jbc.271.34.20845. PMID 8702840.
- "Cdk5 and MAPK are associated with complexes of cytoskeletal proteins in rat brain.". Brain Res. Mol. Brain Res. 76 (2): 229–36. 2000. doi:10.1016/S0169-328X(00)00003-6. PMID 10762698.
- "Transcription of intermediate filament genes is enhanced in focal cortical dysplasia.". Acta Neuropathol. 102 (2): 141–8. 2002. doi:10.1007/s004010000348. PMID 11563628.
- "[Detection of level and mutation of neurofilament mRNA in Alzheimer's disease]". Zhonghua Yi Xue Za Zhi 82 (8): 519–22. 2002. PMID 12133495.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins.". Neurochem. Int. 44 (1): 35–44. 2003. doi:10.1016/S0197-0186(03)00099-8. PMID 12963086.
- "Mutation analysis of the neurofilament M gene in Parkinson's disease.". Neurosci. Lett. 351 (2): 125–9. 2004. doi:10.1016/S0304-3940(03)00903-0. PMID 14583397.
- "NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth.". J. Cell Biol. 163 (5): 1011–20. 2004. doi:10.1083/jcb.200308159. PMID 14662745.
- "The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants.". J. Neuropathol. Exp. Neurol. 63 (7): 759–74. 2004. doi:10.1093/jnen/63.7.759. PMID 15290901.
- "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.". Genome Res. 14 (9): 1711–8. 2004. doi:10.1101/gr.2435604. PMID 15342556.
- "Phosphoproteomic analysis of synaptosomes from human cerebral cortex.". J. Proteome Res. 4 (2): 306–15. 2005. doi:10.1021/pr0498436. PMID 15822905.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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