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
6 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
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
Gene Tree
Ensembl
Citations