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MPV17  -  MpV17 mitochondrial inner membrane protein

Homo sapiens

 
 
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Disease relevance of MPV17

 

High impact information on MPV17

  • MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion [2].
  • Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations [3].
  • M-LP (Mpv17-like protein) has been identified as a new protein that has high sequence homology with Mpv17 protein, a peroxisomal membrane protein involved in the development of early onset glomerulosclerosis [4].
  • Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes [5].

References

  1. Mitochondrial myopathies. Dimauro, S. Current opinion in rheumatology. (2006) [Pubmed]
  2. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Spinazzola, A., Viscomi, C., Fernandez-Vizarra, E., Carrara, F., D'Adamo, P., Calvo, S., Marsano, R.M., Donnini, C., Weiher, H., Strisciuglio, P., Parini, R., Sarzi, E., Chan, A., Dimauro, S., Rötig, A., Gasparini, P., Ferrero, I., Mootha, V.K., Tiranti, V., Zeviani, M. Nat. Genet. (2006) [Pubmed]
  3. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Karadimas, C.L., Vu, T.H., Holve, S.A., Chronopoulou, P., Quinzii, C., Johnsen, S.D., Kurth, J., Eggers, E., Palenzuela, L., Tanji, K., Bonilla, E., De Vivo, D.C., DiMauro, S., Hirano, M. Am. J. Hum. Genet. (2006) [Pubmed]
  4. 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. Iida, R., Yasuda, T., Tsubota, E., Takatsuka, H., Masuyama, M., Matsuki, T., Kishi, K. J. Biol. Chem. (2003) [Pubmed]
  5. Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes. Iida, R., Yasuda, T., Tsubota, E., Takatsuka, H., Matsuki, T., Kishi, K. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
 
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