MpV17 Mitochondrial Inner Membrane Protein (MPV17)
SYM1; Glomerulosclerosis
MPV17 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).The Mpv17 strain of mice carries a transgenically produced retroviral insert in its genome. The integration prevents the expression of the Mpv17 gene, leading to the development of glomerulosclerosis in mice homozygous for the integration. Physiologically and histologically, the phenotype of the kidney disease resembles human glomerulosclerosis. The mice demonstrate nephrotic syndrome at an early age.Sequence analysis demonstrated over 90% identity to the mouse Mpv17 gene in the region coding for a protein of 176 amino acids and unknown function.
Organism species: Homo sapiens (Human)
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Organism species: Mus musculus (Mouse)
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Organism species: Rattus norvegicus (Rat)
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