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. Is expressed in axis; eye; neural crest; notochord; and optic tectum. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2EE and mitochondrial DNA depletion syndrome 6. Orthologous to human MPV17 (mitochondrial inner membrane protein MPV17).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
18 figures from 8 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mpv17 Human Ortholog
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
Associated With mpv17 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR007248 Mpv17/PMP22
Domain Details Per Protein
Protein Length Mpv17/PMP22
UniProtKB:Q5TZ51 177
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations