PRX (gene)

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; OMA:PRX - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.2 Start 40,393,766 bp [1] End 40,414,793 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7 A3|7 15.91 cM Start 27,196,813 bp [2] End 27,219,639 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory bulb trigeminal ganglion sural nerve spinal ganglia pancreatic ductal cell right lung upper lobe of left lung triceps brachii muscle glutes right lobe of thyroid gland Top expressed in sciatic nerve utricle right lung right lung lobe left lung left lung lobe epithelium of lens ankle vestibular sensory epithelium lumbar spinal ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding molecular function Cellular component cytoplasm cell junction plasma membrane membrane 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: 27.2 – 27.22 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. S2CID   15900750.
• 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. S2CID   15903049.
• 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. Bibcode:2002PNAS...9916899M. 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. S2CID   22585765.
• 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. S2CID   7827573.

External links

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