PRX (gene) explained

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]^[4]

Further reading

• Sherman DL, Brophy PJ . A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin. . J. Biol. Chem. . 275 . 7 . 4537–40 . 2000 . 10671475 . 10.1074/jbc.275.7.4537 . free .
• Delague V, Bareil C, Tuffery S, etal . 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 . 10848494 . 10.1086/302980 . 1287083 .
• Nagase T, Kikuno R, Nakayama M, etal . 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 . 10997877 . 10.1093/dnares/7.4.271. free .
• Boerkoel CF, Takashima H, Stankiewicz P, etal . Periaxin mutations cause recessive Dejerine-Sottas neuropathy. . Am. J. Hum. Genet. . 68 . 2 . 325–33 . 2001 . 11133365 . 10.1086/318208 . 1235266 .
• Guilbot A, Williams A, Ravisé N, etal . 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 . 11157804 . 10.1093/hmg/10.4.415 . free .
• Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ . Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. . Neuron . 30 . 3 . 677–87 . 2001 . 11430802 . 10.1016/S0896-6273(01)00327-0 . 15900750 . free .
• Wistow G, Bernstein SL, Wyatt MK, etal . 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 . 12107413 .
• Takashima H, Boerkoel CF, De Jonghe P, etal . Periaxin mutations cause a broad spectrum of demyelinating neuropathies. . Ann. Neurol. . 51 . 6 . 709–15 . 2002 . 12112076 . 10.1002/ana.10213 . 15903049 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Straub BK, Boda J, Kuhn C, etal . A novel cell-cell junction system: the cortex adhaerens mosaic of lens fiber cells. . J. Cell Sci. . 116 . Pt 24 . 4985–95 . 2004 . 14625392 . 10.1242/jcs.00815 . free .
• Kijima K, Numakura C, Shirahata E, etal . Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. . J. Hum. Genet. . 49 . 7 . 376–9 . 2004 . 15197604 . 10.1007/s10038-004-0162-3 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Kabzinska D, Drac H, Sherman DL, etal . Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. . Neurology . 66 . 5 . 745–7 . 2006 . 16534116 . 10.1212/01.wnl.0000201269.46071.35 . 22585765 .
• Otagiri T, Sugai K, Kijima K, etal . Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. . J. Hum. Genet. . 51 . 7 . 625–8 . 2006 . 16770524 . 10.1007/s10038-006-0408-3 . free .
• Olsen JV, Blagoev B, Gnad F, etal . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .

External links

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4

Notes and References

1. Gillespie CS, Sherman DL, Fleetwood-Walker SM, Cottrell DF, Tait S, Garry EM, Wallace VC, Ure J, Griffiths IR, Smith A, Brophy PJ . Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice . Neuron . 26 . 2 . 523–31 . Jun 2000 . 10839370 . 10.1016/S0896-6273(00)81184-8 . free .
2. Gillespie CS, Lee M, Fantes JF, Brophy PJ . The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx) . Genomics . 41 . 2 . 297–8 . Jul 1997 . 9143514 . 10.1006/geno.1997.4630 .
3. Web site: Entrez Gene: PRX periaxin.
4. Web site: Entrez Gene: PRX periaxin.