MPV17
Sign in to saveAlso known as MTDPS6, SYM1, MPV17, mitochondrial inner membrane protein, mitochondrial inner membrane protein MPV17, CMT2EE
Protein MPV17 is a protein that in humans is encoded by the MPV17 gene. It is a mitochondrial inner membrane protein, which has a so far largely unknown role in mtDNA maintenance. Protein MPV17 is expressed in human pancreas, kidney, muscle, liver, lung, placenta, brain and heart. Human MPV17 is the orthologue of the mouse kidney disease gene, Mpv17. Loss of function has been shown to cause hepatocerebral mtDNA depletion syndromes (MDS) with oxidative phosphorylation failure and mtDNA depletion both in affected individuals and in Mpv17−/− mice.
Gene data
MPV17- Name
- mitochondrial inner membrane protein MPV17
- Type
- protein-coding
- Aliases
- CMT2EE, MTDPS6, SYM1
This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008].
via MyGene.info
Gene · Ensembl
mitochondrial inner membrane protein MPV17
- Symbol
- MPV17
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:27,309,486-27,325,680
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 39746
- exact match
- identifiers.org/ncbigene/4358
- genomic end
- 27548547
- genomic start
- 27532360
- cytogenetic location
- 2p23.3
Sources (4)
via Wikidata · CC0
~2 min read
Article
9 sectionsContents
- Function
- Structure
- Gene
- Protein
- Clinical significance
- Interactions
- See also
- References
- Further reading
Protein MPV17 is a protein that in humans is encoded by the MPV17 gene. It is a mitochondrial inner membrane protein, which has a so far largely unknown role in mtDNA maintenance. Protein MPV17 is expressed in human pancreas, kidney, muscle, liver, lung, placenta, brain and heart. Human MPV17 is the orthologue of the mouse kidney disease gene, Mpv17. Loss of function has been shown to cause hepatocerebral mtDNA depletion syndromes (MDS) with oxidative phosphorylation failure and mtDNA depletion both in affected individuals and in Mpv17−/− mice.
== Function ==