Gene
mpv17
- ID
- ZDB-GENE-040426-1168
- Name
- mitochondrial inner membrane protein MPV17
- Symbol
- mpv17 Nomenclature History
- Previous Names
-
- roy
- tra
- transparent
- zgc:63573
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Involved in iridophore differentiation. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2EE and mitochondrial DNA depletion syndrome 6. Is expressed in axis; eye; neural crest; notochord; and optic tectum. Orthologous to human MPV17 (mitochondrial inner membrane protein MPV17).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63573 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 2EE | Alliance | Charcot-Marie-Tooth disease, axonal, type 2EE | 618400 |
| mitochondrial DNA depletion syndrome 6 | Alliance | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 256810 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| mitochondrial DNA depletion syndrome | mpv17a9/a9 | standard conditions | Martorano et al., 2019 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR007248 | Mpv17/PMP22 |
Domain Details Per Protein
| Protein | Length | Mpv17/PMP22 |
|---|---|---|
|
UniProtKB:Q5TZ51
|
177 |
Interactions and Pathways
No data available
Plasmids
No data available