Variant: rs267607259 

    present in Gene: UCN;MPV17
    present in Chromosome: 2
    Position on Chromosome: 27309958
    Alleles of this Variant: G/T

rs267607259 in UCN;MPV17 gene and NAVAJO NEUROHEPATOPATHY PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

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

PMID 25129007 2014 Mitochondrial DNA depletion syndrome causing liver failure.

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

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

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

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

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

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

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

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

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

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

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

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