Gene: MPV17

Alternate names for this Gene: CMT2EE|MTDPS6|SYM1

Gene Summary: 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).

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: mitochondrial inner membrane protein MPV17

Type of Gene: protein-coding

rs4665965 in MPV17 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs4665965 in MPV17 gene and Fasting blood glucose measurement PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs4665965 in MPV17 gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs4665965 in MPV17 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs1057524366 in MPV17 gene and NAVAJO NEUROHEPATOPATHY PMID 29282788 2018 MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

PMID 28207748 2017 Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

PMID 30833296 2019 The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PMID 25861990 2015 The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.

PMID 20074988 2010 In addition, a homozygous p.R50Q mutation has been identified in patients with Navajo neurohepatopathy.

PMID 16582910 2006 MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

PMID 25129007 2014 Mitochondrial DNA depletion syndrome causing liver failure.

PMID 23714749 2014 Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

PMID 16909392 2006 Sequencing of the MPV17 gene in six patients with NNH from five families revealed the homozygous R50Q mutation described elsewhere.

PMID 16582907 2006 Systematic identification of human mitochondrial disease genes through integrative genomics.

PMID 18695062 2008 Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

PMID 17694548 2007 Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

PMID 27536553 2016 MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.

PMID 23829229 2014 Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.

PMID 19520594 2009 Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.

PMID 25016221 2014 Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

PMID 16909392 2006 Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.

PMID 20074988 2010 MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

PMID 24190800 2014 Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.

PMID 22508010 2012 MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

rs1122227 in MPV17 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.