Aliases for MPV17 Gene
External Ids for MPV17 Gene
Previous GeneCards Identifiers 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 (Mitochondrial Inner Membrane Protein MPV17) is a Protein Coding gene. Diseases associated with MPV17 include Mitochondrial Dna Depletion Syndrome 6 and Charcot-Marie-Tooth Disease, Axonal, Type 2Ee. Among its related pathways are Peroxisome. An important paralog of this gene is PXMP2.
UniProtKB/Swiss-Prot Summary 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.