Property Summary

NCBI Gene PubMed Count 30
PubMed Score 40.51
PubTator Score 46.22

Knowledge Summary

Patent

No data available

Expression

Gene RIF (17)

PMID Text
26437932 We report a novel homozygous mutation in MPV17 from two unrelated patients harboring axonal sensorimotor polyneuropathy without hepatoencephalopathy.
25861990 MPV17 is a Deltapsim-modulating channel that apparently contributes to mitochondrial homeostasis under different conditions
23829229 A novel c.191C>G (p.Pro64Arg) MPV17 mutation has been identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
23714749 12 pathogenic mutations in mitochondrial DNA depletion syndrome in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families.
22306510 results suggest that M-LPH functions to protect cells from oxidative stress and/or initiation of the mitochondrial apoptotic cascade under stressed conditions
20877624 Observational study of gene-disease association. (HuGE Navigator)
20614188 Case Report: functional splicing assay based on the use of minigenes to support that MPV17 c.70 + 5G > A mutation is disease causing.
20074988 eight new patients with seven novel mutations in MPV17
19520594 clinical courses of patients with MPV17 mutations are greatly influenced by viral infections & dietary & pharmaceutical treatments targeting mitochondrial respiratory chain complex II may be beneficial in the clinical management of MPV17 mutant patients.
19012992 describes in detail the specific clinical and biological characteristics of three patients with MPV17 gene mutations, a rare hepatocerebral mitochondrial DNA depletion syndrome (MDS)
18695062 study describes clinical, molecular morphological & biochemical features of 3 children with hepatocerebral mitochondrial DNA depletion syndrome secondary to novel MPV17 mutations; data confirm MPV17 mutations are associated with a 2-stage syndrome
18329934 Lethal hepatopathy, polyneuropathy, neurological regression and leukodystrophy are associated with mutations in MPV17.
18261905 Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians.
17694548 Mutations in the MPV17 gene should be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure.
16909392 Sequencing of the MPV17 gene in six patients with Navajo neurohepatopathy from five families revealed the homozygous R50Q mutation described elsewhere.
16631601 These results show the existence of the human homolog of M-LP and its participation in reactive oxygen species metabolism.
16582910 MPV17 is a mitochondrial inner membrane protein, and its absence or malfunction causes oxidative phosphorylation (OXPHOS) failure and mtDNA depletion, not only in affected individuals but also in Mpv17-/- mice

AA Sequence

MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWY      1 - 70
KVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPA     71 - 140
VQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL                                      141 - 176
//

Text Mined References (31)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
26437932 2015 A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25861990 2015 The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.
23829229 2014 Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
23714749 2014 Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
22306510 2012 Identification of Rhit as a novel transcriptional repressor of human Mpv17-like protein with a mitigating effect on mitochondrial dysfunction, and its transcriptional regulation by FOXD3 and GABP.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20614188 2010 Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.
20074988 2010 MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
19520594 2009 Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
19012992 2009 Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.
18695062 2008 Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
18329934 2008 Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
18261905 2008 Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians.
17694548 2007 Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
16909392 2006 Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
16631601 2006 Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes.
16582910 2006 MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
16582907 2006 Systematic identification of human mitochondrial disease genes through integrative genomics.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12471025 2003 M-LP, Mpv17-like protein, has a peroxisomal membrane targeting signal comprising a transmembrane domain and a positively charged loop and up-regulates expression of the manganese superoxide dismutase gene.
8427063 1993 Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue.
8281143 1993 The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization.
7957077 1994 The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species.
7564095 1995 Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue.