Identity
HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
CMT2EE,MTDPS6,SYM1
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: 4358
MIM: 137960
HGNC: 7224
Ensembl: ENSG00000115204
Variants:
dbSNP: 4358
ClinVar: 4358
TCGA: ENSG00000115204
COSMIC: MPV17
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Peroxisome | KEGG | ko04146 |
| Peroxisome | KEGG | hsa04146 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36753038 | 2023 | MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants. | 0 |
| 36753038 | 2023 | MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants. | 0 |
| 33115810 | 2022 | Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. | 4 |
| 35919033 | 2022 | Comprehensive Analysis on the Specific Role and Function of Mitochondrial Inner Membrane Protein MPV17 in Liver Hepatocellular Carcinoma. | 1 |
| 36184088 | 2022 | [Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene]. | 0 |
| 33115810 | 2022 | Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. | 4 |
| 35919033 | 2022 | Comprehensive Analysis on the Specific Role and Function of Mitochondrial Inner Membrane Protein MPV17 in Liver Hepatocellular Carcinoma. | 1 |
| 36184088 | 2022 | [Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene]. | 0 |
| 34116124 | 2021 | NMR Structural and Biophysical Analysis of the Disease-Linked Inner Mitochondrial Membrane Protein MPV17. | 5 |
| 34116124 | 2021 | NMR Structural and Biophysical Analysis of the Disease-Linked Inner Mitochondrial Membrane Protein MPV17. | 5 |
| 32155188 | 2020 | MPV17 does not control cancer cell proliferation. | 3 |
| 32155188 | 2020 | MPV17 does not control cancer cell proliferation. | 3 |
| 30298599 | 2019 | MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. | 7 |
| 30298599 | 2019 | MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. | 7 |
| 29318572 | 2018 | Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy. | 6 |
Citation
Dessen P
MPV17 (mitochondrial inner membrane protein MPV17)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70398/mpv17-(mitochondrial-inner-membrane-protein-mpv17)
