Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57716
MIM: 605725
HGNC: 13797
Ensembl: ENSG00000105227
Variants:
dbSNP: 57716
ClinVar: 57716
TCGA: ENSG00000105227
COSMIC: PRX
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000105227 | ENST00000291825 | Q9BXM0 |
| ENSG00000105227 | ENST00000324001 | Q9BXM0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 26059842 | 2016 | The use of whole-exome sequencing to disentangle complex phenotypes. | 10 |
| 26940996 | 2016 | Intermolecular disulfide bond in the dimerization of S-periaxin mediated by Cys88 and Cys139. | 1 |
| 27081207 | 2016 | Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing. | 9 |
| 26059842 | 2016 | The use of whole-exome sequencing to disentangle complex phenotypes. | 10 |
| 26940996 | 2016 | Intermolecular disulfide bond in the dimerization of S-periaxin mediated by Cys88 and Cys139. | 1 |
| 27081207 | 2016 | Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing. | 9 |
| 24011642 | 2013 | [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. | 6 |
| 24011642 | 2013 | [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. | 6 |
| 22847150 | 2012 | Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. | 16 |
| 22847150 | 2012 | Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. | 16 |
| 21741241 | 2011 | Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. | 12 |
| 21741241 | 2011 | Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. | 12 |
| 19950375 | 2010 | Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis. | 2 |
| 21079185 | 2010 | Four novel cases of periaxin-related neuropathy and review of the literature. | 16 |
| 19950375 | 2010 | Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis. | 2 |
Citation
Dessen P
PRX (periaxin)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72322/prx-(periaxin)
