Identity
HGNC
LOCATION
17p12
LOCUSID
ALIAS
CIDP,CMT1A,CMT1E,DSS,GAS-3,GAS3,HMSNIA,HNPP,Sp110
FUSION GENES
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: 5376
MIM: 601097
HGNC: 9118
Ensembl: ENSG00000109099
Variants:
dbSNP: 5376
ClinVar: 5376
TCGA: ENSG00000109099
COSMIC: PMP22
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38301867 | 2024 | Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel. | 0 |
| 38565510 | 2024 | [Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene]. | 0 |
| 38301867 | 2024 | Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel. | 0 |
| 38565510 | 2024 | [Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene]. | 0 |
| 36511878 | 2023 | Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A. | 6 |
| 36581210 | 2023 | How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease. | 4 |
| 37337674 | 2023 | Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. | 0 |
| 36511878 | 2023 | Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A. | 6 |
| 36581210 | 2023 | How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease. | 4 |
| 37337674 | 2023 | Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. | 0 |
| 34996390 | 2022 | Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report. | 0 |
| 35501275 | 2022 | Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies. | 2 |
| 35886002 | 2022 | Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients. | 4 |
| 35974257 | 2022 | Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation. | 0 |
| 36253232 | 2022 | Young infants with PMP22 duplication can have minor nerve conduction study abnormalities. | 0 |
Citation
Dessen P
PMP22 (peripheral myelin protein 22)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/41755/pmp22
