PRX (gene): Difference between revisions

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{{Infobox_gene}}
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'''Periaxin''' is a [[protein]] that in humans is encoded by the ''PRX'' [[gene]].<ref name="pmid10839370">{{cite journal | vauthors = Gillespie CS, Sherman DL, Fleetwood-Walker SM, Cottrell DF, Tait S, Garry EM, Wallace VC, Ure J, Griffiths IR, Smith A, Brophy PJ | title = Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice | journal = Neuron | volume = 26 | issue = 2 | pages = 523–31 |date=Jun 2000 | pmid = 10839370 | pmc =  | doi =10.1016/S0896-6273(00)81184-8 }}</ref><ref name="pmid9143514">{{cite journal | vauthors = Gillespie CS, Lee M, Fantes JF, Brophy PJ | title = The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx) | journal = Genomics | volume = 41 | issue = 2 | pages = 297–8 |date=Jul 1997 | pmid = 9143514 | pmc =  | doi = 10.1006/geno.1997.4630 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PRX periaxin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57716| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Periaxin
| HGNCid = 13797
| Symbol = PRX
| AltSymbols =; CMT4F; KIAA1620
| OMIM = 605725
| ECnumber =
  | Homologene = 76542
| MGIid = 108176
| GeneAtlas_image1 = PBB_GE_PRX_220024_s_at_tn.png
  | Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}}
  | Process = {{GNF_GO|id=GO:0007638 |text = mechanosensory behavior}} {{GNF_GO|id=GO:0008366 |text = axon ensheathment}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 57716
    | Hs_Ensembl = ENSG00000105227
    | Hs_RefseqProtein = NP_066007
    | Hs_RefseqmRNA = NM_020956
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 19
    | Hs_GenLoc_start = 45591515
    | Hs_GenLoc_end = 45611113
    | Hs_Uniprot = Q9BXM0
    | Mm_EntrezGene = 19153
    | Mm_Ensembl = ENSMUSG00000053198
    | Mm_RefseqmRNA = NM_019412
    | Mm_RefseqProtein = NP_062285
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 27208084
    | Mm_GenLoc_end = 27228801
    | Mm_Uniprot = O55103
  }}
}}
'''Periaxin''', also known as '''PRX''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PRX periaxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57716| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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]<ref name="entrez">{{cite web | title = Entrez Gene: PRX periaxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57716| accessdate = }}</ref>
| summary_text = 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]<ref name="entrez">{{cite web | title = Entrez Gene: PRX periaxin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57716| accessdate = }}</ref>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Gillespie CS, Lee M, Fantes JF, Brophy PJ |title=The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx). |journal=Genomics |volume=41 |issue= 2 |pages= 297-8 |year= 1997 |pmid= 9143514 |doi= 10.1006/geno.1997.4630 }}
*{{cite journal  | vauthors=Sherman DL, Brophy PJ |title=A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin. |journal=J. Biol. Chem. |volume=275 |issue= 7 |pages= 4537–40 |year= 2000 |pmid= 10671475 |doi=10.1074/jbc.275.7.4537 }}
*{{cite journal  | author=Sherman DL, Brophy PJ |title=A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin. |journal=J. Biol. Chem. |volume=275 |issue= 7 |pages= 4537-40 |year= 2000 |pmid= 10671475 |doi= }}
*{{cite journal   |vauthors=Delague V, Bareil C, Tuffery S, etal |title=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. |journal=Am. J. Hum. Genet. |volume=67 |issue= 1 |pages= 236–43 |year= 2000 |pmid= 10848494 |doi=10.1086/302980  | pmc=1287083 }}
*{{cite journal  | author=Gillespie CS, Sherman DL, Fleetwood-Walker SM, ''et al.'' |title=Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. |journal=Neuron |volume=26 |issue= 2 |pages= 523-31 |year= 2000 |pmid= 10839370 |doi= }}
*{{cite journal   |vauthors=Nagase T, Kikuno R, Nakayama M, etal |title=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. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi=  10.1093/dnares/7.4.271}}
*{{cite journal | author=Delague V, Bareil C, Tuffery S, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=67 |issue= 1 |pages= 236-43 |year= 2000 |pmid= 10848494 |doi=  }}
*{{cite journal   |vauthors=Boerkoel CF, Takashima H, Stankiewicz P, etal |title=Periaxin mutations cause recessive Dejerine-Sottas neuropathy. |journal=Am. J. Hum. Genet. |volume=68 |issue= 2 |pages= 325–33 |year= 2001 |pmid= 11133365 |doi=10.1086/318208  | pmc=1235266 }}
*{{cite journal | author=Nagase T, Kikuno R, Nakayama M, ''et al.'' |title=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. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273-81 |year= 2001 |pmid= 10997877 |doi=  }}
*{{cite journal   |vauthors=Guilbot A, Williams A, Ravisé N, etal |title=A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. |journal=Hum. Mol. Genet. |volume=10 |issue= 4 |pages= 415–21 |year= 2001 |pmid= 11157804 |doi=10.1093/hmg/10.4.415 }}
*{{cite journal | author=Boerkoel CF, Takashima H, Stankiewicz P, ''et al.'' |title=Periaxin mutations cause recessive Dejerine-Sottas neuropathy. |journal=Am. J. Hum. Genet. |volume=68 |issue= 2 |pages= 325-33 |year= 2001 |pmid= 11133365 |doi=  }}
*{{cite journal  | vauthors=Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ |title=Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. |journal=Neuron |volume=30 |issue= 3 |pages= 677–87 |year= 2001 |pmid= 11430802 |doi=10.1016/S0896-6273(01)00327-0 }}
*{{cite journal | author=Guilbot A, Williams A, Ravisé N, ''et al.'' |title=A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. |journal=Hum. Mol. Genet. |volume=10 |issue= 4 |pages= 415-21 |year= 2001 |pmid= 11157804 |doi=  }}
*{{cite journal   |vauthors=Wistow G, Bernstein SL, Wyatt MK, etal |title=Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. |journal=Mol. Vis. |volume=8 |issue=  |pages= 171–84 |year= 2002 |pmid= 12107413 |doi=  }}
*{{cite journal  | author=Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ |title=Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. |journal=Neuron |volume=30 |issue= 3 |pages= 677-87 |year= 2001 |pmid= 11430802 |doi=  }}
*{{cite journal   |vauthors=Takashima H, Boerkoel CF, De Jonghe P, etal |title=Periaxin mutations cause a broad spectrum of demyelinating neuropathies. |journal=Ann. Neurol. |volume=51 |issue= 6 |pages= 709–15 |year= 2002 |pmid= 12112076 |doi= 10.1002/ana.10213 }}
*{{cite journal | author=Wistow G, Bernstein SL, Wyatt MK, ''et al.'' |title=Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. |journal=Mol. Vis. |volume=8 |issue=  |pages= 171-84 |year= 2002 |pmid= 12107413 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Takashima H, Boerkoel CF, De Jonghe P, ''et al.'' |title=Periaxin mutations cause a broad spectrum of demyelinating neuropathies. |journal=Ann. Neurol. |volume=51 |issue= 6 |pages= 709-15 |year= 2002 |pmid= 12112076 |doi= 10.1002/ana.10213 }}
*{{cite journal   |vauthors=Straub BK, Boda J, Kuhn C, etal |title=A novel cell-cell junction system: the cortex adhaerens mosaic of lens fiber cells. |journal=J. Cell Sci. |volume=116 |issue= Pt 24 |pages= 4985–95 |year= 2004 |pmid= 14625392 |doi= 10.1242/jcs.00815 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Kijima K, Numakura C, Shirahata E, etal |title=Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. |journal=J. Hum. Genet. |volume=49 |issue= 7 |pages= 376–9 |year= 2004 |pmid= 15197604 |doi= 10.1007/s10038-004-0162-3 }}
*{{cite journal | author=Straub BK, Boda J, Kuhn C, ''et al.'' |title=A novel cell-cell junction system: the cortex adhaerens mosaic of lens fiber cells. |journal=J. Cell. Sci. |volume=116 |issue= Pt 24 |pages= 4985-95 |year= 2004 |pmid= 14625392 |doi= 10.1242/jcs.00815 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Kijima K, Numakura C, Shirahata E, ''et al.'' |title=Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. |journal=J. Hum. Genet. |volume=49 |issue= 7 |pages= 376-9 |year= 2004 |pmid= 15197604 |doi= 10.1007/s10038-004-0162-3 }}
*{{cite journal   |vauthors=Kabzinska D, Drac H, Sherman DL, etal |title=Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. |journal=Neurology |volume=66 |issue= 5 |pages= 745–7 |year= 2006 |pmid= 16534116 |doi= 10.1212/01.wnl.0000201269.46071.35 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Otagiri T, Sugai K, Kijima K, etal |title=Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. |journal=J. Hum. Genet. |volume=51 |issue= 7 |pages= 625–8 |year= 2006 |pmid= 16770524 |doi= 10.1007/s10038-006-0408-3 }}
*{{cite journal | author=Kabzinska D, Drac H, Sherman DL, ''et al.'' |title=Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. |journal=Neurology |volume=66 |issue= 5 |pages= 745-7 |year= 2006 |pmid= 16534116 |doi= 10.1212/01.wnl.0000201269.46071.35 }}
*{{cite journal   |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Otagiri T, Sugai K, Kijima K, ''et al.'' |title=Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. |journal=J. Hum. Genet. |volume=51 |issue= 7 |pages= 625-8 |year= 2006 |pmid= 16770524 |doi= 10.1007/s10038-006-0408-3 }}
*{{cite journal | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
}}
}}
{{refend}}
{{refend}}
==External links==
* [https://www.ncbi.nlm.nih.gov/books/NBK1468/  GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4]
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Latest revision as of 20:37, 8 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

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

  1. ↑ 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.
  2. ↑ 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. ↑ 3.0 3.1 "Entrez Gene: PRX periaxin".

Further reading

External links



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