PRX Antibody

1. The study identified a variant of periaxin in a Chinese family with congenital cataract by exome sequencing. PMID: 27081207
2. results offer a possible mechanism to the formation of periaxin complexes, improvement of complex stability, and establishment of a link between the extracellular matrix and the cytoskeleton PMID: 26940996
3. 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 PMID: 26059842
4. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. PMID: 24011642
5. a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX mutation, was shown. PMID: 22847150
6. Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. PMID: 21741241
7. 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. PMID: 21079185
8. novel mutation in vocal cord paralysis PMID: 19950375
9. Results indicate a prominent sensory neuropathy resulting from periaxin gene mutations and suggests a role for the carboxyl terminal domain of the periaxin protein. PMID: 12112076
10. Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease PMID: 15197604
11. 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. PMID: 16534116
12. A PRX mutation in Japanese patients is presented. PMID: 16770524
13. Data show that the mutations in the periaxin (PRX) gene is associated with early-onset demyelinating AR-CMT and severe sensory loss. PMID: 18504680

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HGNC: 13797

OMIM: 145900

KEGG: hsa:57716

STRING: 9606.ENSP00000326018

UniGene: Hs.205457