Property Summary

NCBI Gene PubMed Count 30
PubMed Score 46.57
PubTator Score 167.10

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
non-small cell lung cancer -1.285 0.000
lung cancer -1.100 0.009
breast carcinoma -1.200 0.000
lung adenocarcinoma -3.700 0.000
non-inflammatory breast cancer -1.600 0.000
psoriasis -1.200 0.000

Synonym

Accession Q9BXM0 Q9BXL9 Q9HCF2
Symbols CMT4F

Gene

PRX

PDB

4CMZ  

  Ortholog (10)

Pathway (1)

Gene RIF (13)

PMID Text
26059842 we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present
24011642 Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis.
22847150 a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX mutation, was shown.
21741241 Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
21079185 In this review, periaxin protein is required for the maintenance of peripheral nerve myelin; however, patients with PRX mutations have early-onset autosomal recessive demyelinating Charcot-Marie-Tooth disease or Dejerine-Sottas neuropathy.
19950375 novel mutation in vocal cord paralysis
19837996 Thirty sequence variants have been found in the analysed genes from patients with Charcot-Marie-Tooth disorders: 5 pathogenic mutations in the GDAP1 gene and 2 pathogenic mutations in the PRX gene.
18504680 Data show that the mutations in the periaxin (PRX) gene is associated with early-onset demyelinating AR-CMT and severe sensory loss.
16770524 A PRX mutation in Japanese patients is presented.
16534116 S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onsetCharcot-Marie-Tooth type 4F disease.
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AA Sequence

MEARSRSAEELRRAELVEIIVETEAQTGVSGINVAGGGKEGIFVRELREDSPAARSLSLQEGDQLLSARV      1 - 70
FFENFKYEDALRLLQCAEPYKVSFCLKRTVPTGDLALRPGTVSGYEIKGPRAKVAKLNIQSLSPVKKKKM     71 - 140
VPGALGVPADLAPVDVEFSFPKFSRLRRGLKAEAVKGPVPAAPARRRLQLPRLRVREVAEEAQAARLAAA    141 - 210
APPPRKAKVEAEVAAGARFTAPQVELVGPRLPGAEVGVPQVSAPKAAPSAEAAGGFALHLPTLGLGAPAP    211 - 280
PAVEAPAVGIQVPQVELPALPSLPTLPTLPCLETREGAVSVVVPTLDVAAPTVGVDLALPGAEVEARGEA    281 - 350
PEVALKMPRLSFPRFGARAKEVAEAKVAKVSPEARVKGPRLRMPTFGLSLLEPRPAAPEVVESKLKLPTI    351 - 420
KMPSLGIGVSGPEVKVPKGPEVKLPKAPEVKLPKVPEAALPEVRLPEVELPKVSEMKLPKVPEMAVPEVR    421 - 490
LPEVELPKVSEMKLPKVPEMAVPEVRLPEVQLLKVSEMKLPKVPEMAVPEVRLPEVQLPKVSEMKLPEVS    491 - 560
EVAVPEVRLPEVQLPKVPEMKVPEMKLPKVPEMKLPEMKLPEVQLPKVPEMAVPDVHLPEVQLPKVPEMK    561 - 630
LPEMKLPEVKLPKVPEMAVPDVHLPEVQLPKVPEMKLPKMPEMAVPEVRLPEVQLPKVSEMKLPKVPEMA    631 - 700
VPDVHLPEVQLPKVCEMKVPDMKLPEIKLPKVPEMAVPDVHLPEVQLPKVSEIRLPEMQVPKVPDVHLPK    701 - 770
APEVKLPRAPEVQLKATKAEQAEGMEFGFKMPKMTMPKLGRAESPSRGKPGEAGAEVSGKLVTLPCLQPE    771 - 840
VDGEAHVGVPSLTLPSVELDLPGALGLQGQVPAAKMGKGERVEGPEVAAGVREVGFRVPSVEIVTPQLPA    841 - 910
VEIEEGRLEMIETKVKPSSKFSLPKFGLSGPKVAKAEAEGAGRATKLKVSKFAISLPKARVGAEAEAKGA    911 - 980
GEAGLLPALDLSIPQLSLDAHLPSGKVEVAGADLKFKGPRFALPKFGVRGRDTEAAELVPGVAELEGKGW    981 - 1050
GWDGRVKMPKLKMPSFGLARGKEAEVQGDRASPGEKAESTAVQLKIPEVELVTLGAQEEGRAEGAVAVSG   1051 - 1120
MQLSGLKVSTAGQVVTEGHDAGLRMPPLGISLPQVELTGFGEAGTPGQQAQSTVPSAEGTAGYRVQVPQV   1121 - 1190
TLSLPGAQVAGGELLVGEGVFKMPTVTVPQLELDVGLSREAQAGEAATGEGGLRLKLPTLGARARVGGEG   1191 - 1260
AEEQPPGAERTFCLSLPDVELSPSGGNHAEYQVAEGEGEAGHKLKVRLPRFGLVRAKEGAEEGEKAKSPK   1261 - 1330
LRLPRVGFSQSEMVTGEGSPSPEEEEEEEEEGSGEGASGRRGRVRVRLPRVGLAAPSKASRGQEGDAAPK   1331 - 1400
SPVREKSPKFRFPRVSLSPKARSGSGDQEEGGLRVRLPSVGFSETGAPGPARMEGAQAAAV            1401 - 1461
//

Text Mined References (31)

PMID Year Title
26059842 2016 The use of whole-exome sequencing to disentangle complex phenotypes.
24675079 2014 Periaxin and AHNAK nucleoprotein 2 form intertwined homodimers through domain swapping.
24633211 2014 Nuclear export of L-periaxin, mediated by its nuclear export signal in the PDZ domain.
24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
24011642 [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
22847150 2012 Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
21741241 2011 Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
21079185 2010 Four novel cases of periaxin-related neuropathy and review of the literature.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
19950375 2010 Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis.
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