Mpv17 - MpV17 mitochondrial inner membrane protein

Predicted to enable channel activity. Involved in several processes, including cellular response to reactive oxygen species; glomerular basement membrane development; and regulation of mitochondrial DNA metabolic process. Acts upstream of or within reactive oxygen species metabolic process and sensory perception of sound. Located in mitochondrion and peroxisome. Used to study autosomal recessive Alport syndrome; mitochondrial DNA depletion syndrome 3; and nephrotic syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2EE and mitochondrial DNA depletion syndrome 6. Orthologous to human MPV17 (mitochondrial inner membrane protein MPV17). [provided by Alliance of Genome Resources, Apr 2022]