PRX (gene)
| Periaxin | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | PRX ; CMT4F | ||||||||||||
| External IDs | OMIM: 605725 MGI: 108176 HomoloGene: 76542 GeneCards: PRX Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 57716 | 19153 | |||||||||||
| Ensembl | ENSG00000105227 | ENSMUSG00000053198 | |||||||||||
| UniProt | Q9BXM0 | O55103 | |||||||||||
| RefSeq (mRNA) | NM_020956 | NM_019412 | |||||||||||
| RefSeq (protein) | NP_066007 | NP_062285 | |||||||||||
| Location (UCSC) | Chr 19: 40.9 – 40.92 Mb | Chr 7: 27.5 – 27.52 Mb | |||||||||||
| PubMed search | |||||||||||||
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
- ↑ Gillespie CS, Sherman DL, Fleetwood-Walker SM, Cottrell DF, Tait S, Garry EM, Wallace VC, Ure J, Griffiths IR, Smith A, Brophy PJ (Jun 2000). "Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice". Neuron 26 (2): 523–31. doi:10.1016/S0896-6273(00)81184-8. PMID 10839370.
- ↑ Gillespie CS, Lee M, Fantes JF, Brophy PJ (Jul 1997). "The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx)". Genomics 41 (2): 297–8. doi:10.1006/geno.1997.4630. PMID 9143514.
- ↑ 3.0 3.1 "Entrez Gene: PRX periaxin".
Further reading
- Sherman DL, Brophy PJ (2000). "A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin.". J. Biol. Chem. 275 (7): 4537–40. doi:10.1074/jbc.275.7.4537. PMID 10671475.
- Delague V, Bareil C, Tuffery S et al. (2000). "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. doi:10.1086/302980. PMC 1287083. PMID 10848494.
- Nagase T, Kikuno R, Nakayama M et al. (2001). "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. doi:10.1093/dnares/7.4.271. PMID 10997877.
- Boerkoel CF, Takashima H, Stankiewicz P et al. (2001). "Periaxin mutations cause recessive Dejerine-Sottas neuropathy.". Am. J. Hum. Genet. 68 (2): 325–33. doi:10.1086/318208. PMC 1235266. PMID 11133365.
- Guilbot A, Williams A, Ravisé N et al. (2001). "A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.". Hum. Mol. Genet. 10 (4): 415–21. doi:10.1093/hmg/10.4.415. PMID 11157804.
- Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ (2001). "Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy.". Neuron 30 (3): 677–87. doi:10.1016/S0896-6273(01)00327-0. PMID 11430802.
- Wistow G, Bernstein SL, Wyatt MK et al. (2002). "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. PMID 12107413.
- Takashima H, Boerkoel CF, De Jonghe P et al. (2002). "Periaxin mutations cause a broad spectrum of demyelinating neuropathies.". Ann. Neurol. 51 (6): 709–15. doi:10.1002/ana.10213. PMID 12112076.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Straub BK, Boda J, Kuhn C et al. (2004). "A novel cell-cell junction system: the cortex adhaerens mosaic of lens fiber cells.". J. Cell. Sci. 116 (Pt 24): 4985–95. doi:10.1242/jcs.00815. PMID 14625392.
- Kijima K, Numakura C, Shirahata E et al. (2004). "Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.". J. Hum. Genet. 49 (7): 376–9. doi:10.1007/s10038-004-0162-3. PMID 15197604.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Kabzinska D, Drac H, Sherman DL et al. (2006). "Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.". Neurology 66 (5): 745–7. doi:10.1212/01.wnl.0000201269.46071.35. PMID 16534116.
- Otagiri T, Sugai K, Kijima K et al. (2006). "Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.". J. Hum. Genet. 51 (7): 625–8. doi:10.1007/s10038-006-0408-3. PMID 16770524.
- Olsen JV, Blagoev B, Gnad F et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.