MPV17
| MpV17 mitochondrial inner membrane protein | |||||||||||
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| Identifiers | |||||||||||
| Symbols | MPV17 ; SYM1 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 39746 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE MPV17 206072 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
MpV17 mitochondrial inner membrane protein, also known as MPV17, is a human gene.[1]
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).[1]
References
Further reading
- Schenkel J, Zwacka RM, Rutenberg C; et al. (1995). "Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue". Kidney Int. 48 (1): 80–4. PMID 7564095.
- Karasawa M, Zwacka RM, Reuter A; et al. (1994). "The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization". Hum. Mol. Genet. 2 (11): 1829–34. PMID 8281143.
- Weiher H (1993). "Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue". Adv. Nephrol. Necker Hosp. 22: 37–42. PMID 8427063.
- Iida R, Yasuda T, Tsubota E; et al. (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". J. Biol. Chem. 278 (8): 6301–6. doi:10.1074/jbc.M210886200. PMID 12471025.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Hillier LW, Graves TA, Fulton RS; et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
- Calvo S, Jain M, Xie X; et al. (2006). "Systematic identification of human mitochondrial disease genes through integrative genomics". Nat. Genet. 38 (5): 576–82. doi:10.1038/ng1776. PMID 16582907.
- Spinazzola A, Viscomi C, Fernandez-Vizarra E; et al. (2006). "MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion". Nat. Genet. 38 (5): 570–5. doi:10.1038/ng1765. PMID 16582910.
- Iida R, Yasuda T, Tsubota E; et al. (2006). "Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes". Biochem. Biophys. Res. Commun. 344 (3): 948–54. doi:10.1016/j.bbrc.2006.04.008. PMID 16631601.
- Karadimas CL, Vu TH, Holve SA; et al. (2006). "Navajo neurohepatopathy is caused by a mutation in the MPV17 gene". Am. J. Hum. Genet. 79 (3): 544–8. doi:10.1086/506913. PMID 16909392.
- Wong LJ, Brunetti-Pierri N, Zhang Q; et al. (2007). "Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy". Hepatology. 46 (4): 1218–27. doi:10.1002/hep.21799. PMID 17694548.
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