View MPV17 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol MPV17
Gene name MpV17 mitochondrial inner membrane protein
Chromosome 2
Chromosomal band p23.3
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_002437.4
Associated with diseases MTDPS6
Citation reference(s) -
Curators (0) -
Total number of public variants reported 19
Unique public DNA variants reported 19
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 07, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 7224
Entrez Gene 4358
PubMed articles MPV17
OMIM - Gene 137960
OMIM - Diseases MTDPS6 (Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3))
HGMD MPV17
GeneCards MPV17
GeneTests MPV17


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000173 2 MpV17 mitochondrial inner membrane protein NM_002437.4 NP_002428.1 19


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium