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: 5630
MIM: 170710
HGNC: 9461
Ensembl: ENSG00000135406
Variants:
dbSNP: 5630
ClinVar: 5630
TCGA: ENSG00000135406
COSMIC: PRPH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000135406 | ENST00000257860 | P41219 |
| ENSG00000135406 | ENST00000451891 | F8W835 |
| ENSG00000135406 | ENST00000532332 | H7C5W5 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | KEGG | ko05014 |
| Amyotrophic lateral sclerosis (ALS) | KEGG | hsa05014 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30822235 | 2019 | Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln. | 2 |
| 30992453 | 2019 | A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy. | 7 |
| 30822235 | 2019 | Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln. | 2 |
| 30992453 | 2019 | A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy. | 7 |
| 29196434 | 2017 | Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin. | 48 |
| 29196434 | 2017 | Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin. | 48 |
| 26469323 | 2016 | Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease. | 5 |
| 27185639 | 2016 | Discovery of Phosphorylated Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus. | 12 |
| 26469323 | 2016 | Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease. | 5 |
| 27185639 | 2016 | Discovery of Phosphorylated Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus. | 12 |
| 23179371 | 2013 | Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin. | 24 |
| 23179371 | 2013 | Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin. | 24 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
| 20363051 | 2011 | A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient. | 24 |
Citation
Dessen P
PRPH (peripherin)
Atlas Genet Cytogenet Oncol Haematol. 2008-09-01
Online version: http://atlasgeneticsoncology.org/gene/50325/prph
