PRX (gene)

Periaxin
Identifiers
Symbols	PRX ; CMT4F; KIAA1620
External IDs	Template:OMIM5 Template:MGI HomoloGene: 76542
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PRX 220024 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Periaxin, also known as PRX, is a human gene.

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]

Further reading

• Gillespie CS, Lee M, Fantes JF, Brophy PJ (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.CS1 maint: Multiple names: authors list (link)
• Sherman DL, Brophy PJ (2000). "A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin". J. Biol. Chem. 275 (7): 4537–40. PMID 10671475.
• Gillespie CS, Sherman DL, Fleetwood-Walker SM; et al. (2000). "Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice". Neuron. 26 (2): 523–31. PMID 10839370.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10848494.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10997877.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Boerkoel CF, Takashima H, Stankiewicz P; et al. (2001). "Periaxin mutations cause recessive Dejerine-Sottas neuropathy". Am. J. Hum. Genet. 68 (2): 325–33. PMID 11133365.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11157804.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11430802.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)