GENETIC ENCYCLOPEDIA
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gene: MPV17

id4358
symbolMPV17
organismHomo sapiens
full namemitochondrial inner membrane protein MPV17
summaryThis 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). [provided by RefSeq, Jul 2008]
variant-disease

NM_002437.5(MPV17):c.*360G>C AND Mitochondrial DNA depletion syndrome

NM_002437.5(MPV17):c.294G>A (p.Pro98=) AND not specified

NM_002437.5(MPV17):c.461+17C>A AND not specified

NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) AND Mitochondrial DNA depletion syndrome

NM_002437.5(MPV17):c.461G>C (p.Arg154Thr) AND not provided

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