rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
30833296
2019
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
29282788
2018
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.
28207748
2017
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
26741492
2016
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
27536553
2016
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.
25861990
2015
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
23714749
2014
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
Mitochondrial DNA depletion syndrome causing liver failure.
25129007
2014
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
23829229
2014
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
BEFREE
In addition, a homozygous p.R50Q mutation has been identified in patients with Navajo neurohepatopathy .
20074988
2010
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
In addition, a homozygous p.R50Q mutation has been identified in patients with Navajo neurohepatopathy .
20074988
2010
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
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
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
18695062
2008
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
17694548
2007
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
Systematic identification of human mitochondrial disease genes through integrative genomics.
16582907
2006
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
BEFREE
Sequencing of the MPV17 gene in six patients with NNH from five families revealed the homozygous R50Q mutation described elsewhere.
16909392
2006
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
16582910
2006
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.820
GeneticVariation
UNIPROT
Sequencing of the MPV17 gene in six patients with NNH from five families revealed the homozygous R50Q mutation described elsewhere.
16909392
2006
rs121909721
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
T
0.820
CausalMutation
CLINVAR
rs121909722
MPV17;UCN
NAVAJO NEUROHEPATOPATHY
0.800
GeneticVariation
UNIPROT
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
30833296
2019
rs121909723
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.800
GeneticVariation
UNIPROT
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
30833296
2019
rs267607256
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.800
GeneticVariation
UNIPROT
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
30833296
2019
rs267607257
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.800
GeneticVariation
UNIPROT
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
30833296
2019
rs267607258
×
Entrez Id:
4358
Gene Symbol:
MPV17
MPV17
NAVAJO NEUROHEPATOPATHY
0.800
GeneticVariation
UNIPROT
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
30833296
2019
rs267607259
MPV17;UCN
NAVAJO NEUROHEPATOPATHY
0.800
GeneticVariation
UNIPROT
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
30833296
2019