PRX (gene)

Periaxin is a protein that in humans is encoded by the PRX gene.[5][6][7]

PRX
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4CMZ
Identifiers
Aliases	PRX, CMT4F, periaxin
External IDs	OMIM: 605725 MGI: 108176 HomoloGene: 76542 GeneCards: PRX
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.2 Start 40,393,766 bp[1] End 40,414,742 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A3|7 15.91 cM Start 27,497,388 bp[2] End 27,520,214 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • molecular function Cellular component • cytoplasm • cell junction • cell membrane • membrane • cell nucleus • T-tubule Biological process • axon ensheathment • regulation of RNA splicing Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57716	19153
Ensembl	ENSG00000105227	ENSMUSG00000053198
UniProt	Q9BXM0	O55103
RefSeq (mRNA)	NM_020956 NM_181882	NM_019412 NM_198048
RefSeq (protein)	NP_066007 NP_870998	NP_062285 NP_932165
Location (UCSC)	Chr 19: 40.39 – 40.41 Mb	Chr 7: 27.5 – 27.52 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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][7]

References

1. GRCh38: Ensembl release 89: ENSG00000105227 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000053198 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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.

External links

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