Aliases for MPV17 Gene
External Ids for MPV17 Gene
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). [provided by RefSeq, Jul 2008]
GeneCards Summary for MPV17 Gene
MPV17 (MpV17 Mitochondrial Inner Membrane Protein) is a Protein Coding gene. Diseases associated with MPV17 include mitochondrial dna depletion syndrome 6 and mpv17-related hepatocerebral mitochondrial dna depletion syndrome. Among its related pathways are Peroxisome. An important paralog of this gene is MPV17L2.
UniProtKB/Swiss-Prot for MPV17 Gene
Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance