Property Summary

NCBI Gene PubMed Count 30
Grant Count 85
R01 Count 62
Funding $6,395,062.66
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  

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.
More...