×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
30833296
2019
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
Biomarker
GENOMICS_ENGLAND
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
18695062
2008
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
17694548
2007
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
Biomarker
GENOMICS_ENGLAND
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
22508010
2012
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
23714749
2014
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
19520594
2009
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations.
16909392
2006
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
26741492
2016
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
Biomarker
CTD_human
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
23829229
2014
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
27536553
2016
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy .
29282788
2018
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
Biomarker
GENOMICS_ENGLAND
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
22508010
2012
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
16582910
2006
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.
25861990
2015
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.
28207748
2017
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
Mitochondrial DNA depletion syndrome causing liver failure.
25129007
2014
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
Systematic identification of human mitochondrial disease genes through integrative genomics.
16582907
2006
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
20074988
2010
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
GeneticVariation
UNIPROT
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
18695062
2008
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.760
Biomarker
GENOMICS_ENGLAND
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
16582910
2006