Biology:PRX (gene)
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Periaxin is a protein that in humans is encoded by the PRX gene.[1][2][3]
The PRX gene encodes L- and S-periaxin, proteins of myelinating Schwann cells, and is mutated in Dejerine–Sottas syndrome (MIM 145900) and Charcot–Marie–Tooth disease type 4F (MIM 145900).[supplied by OMIM][3]
References
- ↑ "Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice". Neuron 26 (2): 523–31. Jun 2000. doi:10.1016/S0896-6273(00)81184-8. PMID 10839370.
- ↑ "The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx)". Genomics 41 (2): 297–8. Jul 1997. doi:10.1006/geno.1997.4630. PMID 9143514.
- ↑ 3.0 3.1 "Entrez Gene: PRX periaxin". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57716.
Further reading
- "A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin.". J. Biol. Chem. 275 (7): 4537–40. 2000. doi:10.1074/jbc.275.7.4537. PMID 10671475.
- "Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.". Am. J. Hum. Genet. 67 (1): 236–43. 2000. doi:10.1086/302980. PMID 10848494.
- "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 7 (4): 273–81. 2001. doi:10.1093/dnares/7.4.271. PMID 10997877.
- "Periaxin mutations cause recessive Dejerine-Sottas neuropathy.". Am. J. Hum. Genet. 68 (2): 325–33. 2001. doi:10.1086/318208. PMID 11133365.
- "A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.". Hum. Mol. Genet. 10 (4): 415–21. 2001. doi:10.1093/hmg/10.4.415. PMID 11157804.
- "Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy.". Neuron 30 (3): 677–87. 2001. doi:10.1016/S0896-6273(01)00327-0. PMID 11430802.
- "Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.". Mol. Vis. 8: 171–84. 2002. PMID 12107413.
- "Periaxin mutations cause a broad spectrum of demyelinating neuropathies.". Ann. Neurol. 51 (6): 709–15. 2002. doi:10.1002/ana.10213. PMID 12112076.
- "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.
- "A novel cell-cell junction system: the cortex adhaerens mosaic of lens fiber cells.". J. Cell Sci. 116 (Pt 24): 4985–95. 2004. doi:10.1242/jcs.00815. PMID 14625392.
- "Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.". J. Hum. Genet. 49 (7): 376–9. 2004. doi:10.1007/s10038-004-0162-3. PMID 15197604.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.". Neurology 66 (5): 745–7. 2006. doi:10.1212/01.wnl.0000201269.46071.35. PMID 16534116.
- "Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.". J. Hum. Genet. 51 (7): 625–8. 2006. doi:10.1007/s10038-006-0408-3. PMID 16770524.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
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