DISEASES

Disease-gene associations mined from literature

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 ...

Linkouts:  STRING  Pharos  UniProt