This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein... See more...

Aliases for PRX Gene

Aliases for PRX Gene

  • Periaxin 2 3 4 5
  • KIAA1620 2 4
  • CMT4F 3
  • PRX 5

External Ids for PRX Gene

Previous GeneCards Identifiers for PRX Gene

  • GC19M041539
  • GC19M041291
  • GC19M045575
  • GC19M045591
  • GC19M040899
  • GC19M037335

Summaries for PRX Gene

Entrez Gene Summary for PRX Gene

  • This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRX Gene

PRX (Periaxin) is a Protein Coding gene. Diseases associated with PRX include Charcot-Marie-Tooth Disease, Demyelinating, Type 4F and Hypertrophic Neuropathy Of Dejerine-Sottas. An important paralog of this gene is AHNAK2.

UniProtKB/Swiss-Prot Summary for PRX Gene

  • Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.

Gene Wiki entry for PRX Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRX Gene

Genomics for PRX Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PRX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J040413 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 612.4 +1.1 1141 1.2 CREB1 ATF7 KDM1A PATZ1 ZNF639 ZNF524 HDAC2 ZNF138 ZNF580 ATF2 PRX lnc-SERTAD1-1 HIPK4
GH19J040414 Promoter 0.5 EPDnew 600.7 -0.1 -54 0.1 NFIC GLIS2 PRX SERTAD1
GH19J040277 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 +132.2 132165 10.4 ZNF221 SP1 CREB1 GATAD2A HNRNPL PRDM10 ZNF629 REST SIX5 LEF1 AKT2 MIR641 lnc-C19orf47-3 ZNF780B SUPT5H COQ8B SNRPA NUMBL ZNF780A ENSG00000269843
GH19J040347 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.7 +66.2 66241 3 ZNF221 SP1 CREB1 GATAD2A HNRNPL ATF7 TEAD4 PRDM10 ZNF629 TFE3 PLD3 C19orf47 lnc-SPTBN4-1 ZNF780B SNRPA ENSG00000269843 HNRNPUL1 SUPT5H ZNF780A CYP2G1P
GH19J040415 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.5 -2.4 -2350 2.8 SP1 GATAD2A PRDM10 TFE3 ZNF512 LEF1 IKZF1 KDM1A JUND FOXA1 SNRPA CCDC97 ENSG00000269843 HNRNPUL1 SERTAD3 PRX FBL AKT2 COQ8B ZNF780A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRX on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRX

Top Transcription factor binding sites by QIAGEN in the PRX gene promoter:
  • COUP
  • COUP-TF
  • HNF-4alpha1
  • p53

Genomic Locations for PRX Gene

Genomic Locations for PRX Gene
chr19:40,393,762-40,414,742
(GRCh38/hg38)
Size:
20,981 bases
Orientation:
Minus strand
chr19:40,899,671-40,919,273
(GRCh37/hg19)
Size:
19,603 bases
Orientation:
Minus strand

Genomic View for PRX Gene

Genes around PRX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRX Gene

Proteins for PRX Gene

  • Protein details for PRX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXM0-PRAX_HUMAN
    Recommended name:
    Periaxin
    Protein Accession:
    Q9BXM0
    Secondary Accessions:
    • Q9BXL9
    • Q9HCF2

    Protein attributes for PRX Gene

    Size:
    1461 amino acids
    Molecular mass:
    154905 Da
    Quaternary structure:
    • Homodimer (via PDZ domain) (PubMed:24675079). Interacts with SCN10A. Found in a complex with SCN10A (By similarity). Interacts with DRP2. Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). Detected in a complex composed of at least EZR, AHNAK, PPL and PRX (By similarity). Identified in a complex with EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, VIM and spectrin (By similarity).
    SequenceCaution:
    • Sequence=BAB13446.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB13446.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PRX Gene

    Alternative splice isoforms for PRX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRX Gene

Post-translational modifications for PRX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRX Gene

No data available for DME Specific Peptides for PRX Gene

Domains & Families for PRX Gene

Gene Families for PRX Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PRX Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
ProtoNet:

Suggested Antigen Peptide Sequences for PRX Gene

GenScript: Design optimal peptide antigens:
  • Periaxin (PRAX_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BXM0

UniProtKB/Swiss-Prot:

PRAX_HUMAN :
  • Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may separate two functional basic and acidic domains.
  • Belongs to the periaxin family.
Domain:
  • Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may separate two functional basic and acidic domains.
  • The Arg/Lys-rich basic domain functions as a tripartite nuclear localization signal.
  • The PDZ domain contains the signal for export from the nucleus (PubMed:24633211). The N-terminal region including the PDZ domain is required for the formation of Cajal bands on myelinated nerves.
Family:
  • Belongs to the periaxin family.
genes like me logo Genes that share domains with PRX: view

Function for PRX Gene

Molecular function for PRX Gene

UniProtKB/Swiss-Prot Function:
Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.

Phenotypes From GWAS Catalog for PRX Gene

Gene Ontology (GO) - Molecular Function for PRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA,IPI 17474147
genes like me logo Genes that share ontologies with PRX: view
genes like me logo Genes that share phenotypes with PRX: view

Human Phenotype Ontology for PRX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRX Gene

MGI Knock Outs for PRX:
  • Prx Prx<tm1Brp>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRX

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRX Gene

Localization for PRX Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRX Gene

[Isoform 1]: Cell membrane. Peripheral membrane protein. Cytoplasmic side. Nucleus. Cytoplasm. Note=Detected in the Schwann cell nucleus prior to the onset of myelination. Detected in Schwann cells at periaxonal myelin membranes. Associated with the cell membrane during myelination. {ECO:0000250 UniProtKB:O55103}.
[Isoform 2]: Cytoplasm.
Cell membrane. Cell junction. Note=Colocalizes with ACTB at tricellular junctions between eye lens fiber cells. {ECO:0000250 UniProtKB:O55103}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRX gene
Compartment Confidence
nucleus 5
plasma membrane 4
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 24633211
GO:0005737 cytoplasm IBA,IDA 24633211
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with PRX: view

Pathways & Interactions for PRX Gene

PathCards logo

SuperPathways for PRX Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008366 axon ensheathment NAS 11133365
GO:0032287 peripheral nervous system myelin maintenance IBA 21873635
GO:0043484 regulation of RNA splicing IBA 21873635
genes like me logo Genes that share ontologies with PRX: view

No data available for Pathways by source and SIGNOR curated interactions for PRX Gene

Drugs & Compounds for PRX Gene

(1) Drugs for PRX Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cysteic acid Experimental Pharma Target 0
genes like me logo Genes that share compounds with PRX: view

Transcripts for PRX Gene

mRNA/cDNA for PRX Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRX

Alternative Splicing Database (ASD) splice patterns (SP) for PRX Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2: - -
SP3:
SP4:

Relevant External Links for PRX Gene

GeneLoc Exon Structure for
PRX

Expression for PRX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRX Gene

This gene is overexpressed in Nerve - Tibial (x32.8).

Protein differential expression in normal tissues from HIPED for PRX Gene

This gene is overexpressed in Spinal cord (63.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRX Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRX

SOURCE GeneReport for Unigene cluster for PRX Gene:

Hs.205457

mRNA Expression by UniProt/SwissProt for PRX Gene:

Q9BXM0-PRAX_HUMAN
Tissue specificity: Detected in spinal cord (PubMed:11133365). Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells (PubMed:11157804).

Evidence on tissue expression from TISSUES for PRX Gene

  • Heart(5)
  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • head
  • meninges
  • neck
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PRX: view

No data available for Protein tissue co-expression partners for PRX Gene

Orthologs for PRX Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRX Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PRX 30 31
  • 98.47 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PRX 30 31
  • 84.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PRX 30 31
  • 84.28 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Prx 30 17 31
  • 81.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Prx 30
  • 80.38 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia PRX 31
  • 61 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PRX 31
  • 35 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ahnak 31
  • 5 (a)
OneToMany
Species where no ortholog for PRX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PRX Gene

ENSEMBL:
Gene Tree for PRX (if available)
TreeFam:
Gene Tree for PRX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRX: view image

Paralogs for PRX Gene

Paralogs for PRX Gene

genes like me logo Genes that share paralogs with PRX: view

Variants for PRX Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRX Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
637391 Pathogenic: Charcot-Marie-Tooth disease 40,397,178(-) GA/G FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT
637392 Pathogenic: Charcot-Marie-Tooth disease 40,403,764(-) G/GAT FRAMESHIFT_VARIANT
637393 Conflicting Interpretations: Charcot-Marie-Tooth disease, demyelinating, type 4F; Charcot-Marie-Tooth disease 40,397,154(-) GGGAA/G FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT
637394 Uncertain Significance: Charcot-Marie-Tooth disease 40,395,252(-) CA/C FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT
637395 Uncertain Significance: Charcot-Marie-Tooth disease 40,396,308(-) C/A NONSENSE,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for PRX Gene

Structural Variations from Database of Genomic Variants (DGV) for PRX Gene

Variant ID Type Subtype PubMed ID
esv2718564 CNV deletion 23290073
esv3556393 CNV deletion 23714750
nsv833831 CNV loss 17160897
nsv953575 CNV deletion 24416366

Variation tolerance for PRX Gene

Residual Variation Intolerance Score: 82.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.69; 73.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRX Gene

Human Gene Mutation Database (HGMD)
PRX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRX

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRX Gene

Disorders for PRX Gene

MalaCards: The human disease database

(32) MalaCards diseases for PRX Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PRX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRAX_HUMAN
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:11133365}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 4F (CMT4F) [MIM:614895]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome. {ECO:0000269 PubMed:22847150}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PRX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PRX: view

No data available for Genatlas for PRX Gene

Publications for PRX Gene

  1. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel CF … Lupski JR (Annals of neurology 2002) 3 23 41
  2. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. (PMID: 11157804) Guilbot A … Claustres M (Human molecular genetics 2001) 3 4 23
  3. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. (PMID: 11133365) Boerkoel CF … Lupski JR (American journal of human genetics 2001) 3 4 23
  4. Nuclear export of L-periaxin, mediated by its nuclear export signal in the PDZ domain. (PMID: 24633211) Shi Y … Yang T (PloS one 2014) 3 4
  5. Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. (PMID: 22847150) Tokunaga S … Takashima H (Neurogenetics 2012) 3 4

Products for PRX Gene

  • Signalway ELISA kits for PRX
  • Signalway Proteins for PRX

Sources for PRX Gene