Identity
HGNC
LOCATION
1q23.3
LOCUSID
ALIAS
CHM,CHN2,CMT1,CMT1B,CMT2I,CMT2J,CMT4E,CMTDI3,CMTDID,DSS,HMSNIB,MPP,P0
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: 4359
MIM: 159440
HGNC: 7225
Ensembl: ENSG00000158887
Variants:
dbSNP: 4359
ClinVar: 4359
TCGA: ENSG00000158887
COSMIC: MPZ
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000158887 | ENST00000463290 | P25189 |
| ENSG00000158887 | ENST00000491222 | E9PL80 |
| ENSG00000158887 | ENST00000526189 | A0A0J9YWT2 |
| ENSG00000158887 | ENST00000533357 | P25189 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cell adhesion molecules (CAMs) | KEGG | ko04514 |
| Cell adhesion molecules (CAMs) | KEGG | hsa04514 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37581289 | 2024 | Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort. | 3 |
| 37581289 | 2024 | Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort. | 3 |
| 36203352 | 2023 | Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. | 4 |
| 37372933 | 2023 | Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. | 1 |
| 37542466 | 2023 | Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease. | 2 |
| 36203352 | 2023 | Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. | 4 |
| 37372933 | 2023 | Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. | 1 |
| 37542466 | 2023 | Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease. | 2 |
| 35174662 | 2022 | MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease. | 1 |
| 36567457 | 2022 | Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report. | 0 |
| 35174662 | 2022 | MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease. | 1 |
| 36567457 | 2022 | Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report. | 0 |
| 33179255 | 2021 | Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan. | 10 |
| 33960567 | 2021 | Loss of function MPZ mutation causes milder CMT1B neuropathy. | 9 |
| 34205075 | 2021 | Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies. | 24 |
Citation
Dessen P
MPZ (myelin protein zero)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70401/mpz-(myelin-protein-zero)
