Literature associating MPV17 and 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
MPV17 [ENSP00000369383]
Protein Mpv17; Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis . Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance . May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity).
Synonyms: MPV17, MPV17p, hMPV17, A0A0S2Z3Z9, A8MPV4 ...