MPV17

MpV17 mitochondrial inner membrane protein, also known as MPV17, is a human gene.cite web | title = Entrez Gene: MPV17 MpV17 mitochondrial inner membrane protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4358| accessdate = ]

PBB_Summary
section_title =
summary_text = 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).cite web | title = Entrez Gene: MPV17 MpV17 mitochondrial inner membrane protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4358| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Schenkel J, Zwacka RM, Rutenberg C, "et al." |title=Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. |journal=Kidney Int. |volume=48 |issue= 1 |pages= 80–4 |year= 1995 |pmid= 7564095 |doi=
*cite journal | author=Karasawa M, Zwacka RM, Reuter A, "et al." |title=The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization. |journal=Hum. Mol. Genet. |volume=2 |issue= 11 |pages= 1829–34 |year= 1994 |pmid= 8281143 |doi=
*cite journal | author=Weiher H |title=Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue. |journal=Adv. Nephrol. Necker Hosp. |volume=22 |issue= |pages= 37–42 |year= 1993 |pmid= 8427063 |doi=
*cite journal | author=Iida R, Yasuda T, Tsubota E, "et al." |title=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. |journal=J. Biol. Chem. |volume=278 |issue= 8 |pages= 6301–6 |year= 2003 |pmid= 12471025 |doi= 10.1074/jbc.M210886200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Hillier LW, Graves TA, Fulton RS, "et al." |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466
*cite journal | author=Calvo S, Jain M, Xie X, "et al." |title=Systematic identification of human mitochondrial disease genes through integrative genomics. |journal=Nat. Genet. |volume=38 |issue= 5 |pages= 576–82 |year= 2006 |pmid= 16582907 |doi= 10.1038/ng1776
*cite journal | author=Spinazzola A, Viscomi C, Fernandez-Vizarra E, "et al." |title=MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. |journal=Nat. Genet. |volume=38 |issue= 5 |pages= 570–5 |year= 2006 |pmid= 16582910 |doi= 10.1038/ng1765
*cite journal | author=Iida R, Yasuda T, Tsubota E, "et al." |title=Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes. |journal=Biochem. Biophys. Res. Commun. |volume=344 |issue= 3 |pages= 948–54 |year= 2006 |pmid= 16631601 |doi= 10.1016/j.bbrc.2006.04.008
*cite journal | author=Karadimas CL, Vu TH, Holve SA, "et al." |title=Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. |journal=Am. J. Hum. Genet. |volume=79 |issue= 3 |pages= 544–8 |year= 2006 |pmid= 16909392 |doi= 10.1086/506913
*cite journal | author=Wong LJ, Brunetti-Pierri N, Zhang Q, "et al." |title=Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. |journal=Hepatology |volume=46 |issue= 4 |pages= 1218–27 |year= 2007 |pmid= 17694548 |doi= 10.1002/hep.21799

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