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 MPV17L2.
UniProtKB/Swiss-Prot Summary for MPV17 Gene
Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity).