Protein MPV17 is a protein that in humans is encoded by the MPV17 gene.[5][6][7] It is a mitochondrial inner membrane protein, which has a so far largely unknown role in mtDNA maintenance. Protein MPV17 is expressed in human pancreas, kidney, muscle, liver, lung, placenta, brain and heart.[8] Human MPV17 is the orthologue of the mouse kidney disease gene, Mpv17. Loss of function has been shown to cause hepatocerebral mtDNA depletion syndromes (MDS) with oxidative phosphorylation failure and mtDNA depletion both in affected individuals and in Mpv17−/− mice.[6][9]
^ abcGRCh38: Ensembl release 89: ENSG00000115204 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000107283 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Karasawa M, Zwacka RM, Reuter A, Fink T, Hsieh CL, Lichter P, Francke U, Weiher H (Nov 1993). "The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization". Human Molecular Genetics. 2 (11): 1829–34. doi:10.1093/hmg/2.11.1829. PMID 8281143.
^ abSpinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M (May 2006). "MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion". Nature Genetics. 38 (5): 570–5. doi:10.1038/ng1765. hdl:11577/3321860. PMID 16582910. S2CID 17999433.
^Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J (Feb 2014). "Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene". European Journal of Human Genetics. 22 (2): 184–91. doi:10.1038/ejhg.2013.112. PMC 3895632. PMID 23714749.
^Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M, Zeviani M (Jan 2009). "Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice". Human Molecular Genetics. 18 (1): 12–26. doi:10.1093/hmg/ddn309. PMC 2644642. PMID 18818194.
Protein MPV17 is a protein that in humans is encoded by the MPV17 gene. It is a mitochondrial inner membrane protein, which has a so far largely unknown...
later in infancy or in childhood. In MDDS associated with mutations in MPV17 that primarily affect the brain and the liver, the symptoms are similar...
(June 28, 2009). "Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene". The American Journal of Human Genetics. 79 (3): 544–548. doi:10.1086/506913...
MPV17 mitochondrial inner membrane protein like 2 is a protein that in humans is encoded by the MPV17L2 gene. GRCh38: Ensembl release 89: ENSG00000254858...
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