TMEM70 is a recently identified mitochondrial protein that is thought to play a role in the biogenesis of the ATP synthase in higher eukaryotes. Mutations in this gene result in early neonatal onset of hypotonia, hypertrophic cardiomyopathy, lactic acidos and 3-methylglutaconic aciduria (3-MGC-uria), and usually cause death within the first six weeks of life, although some patients survive much longer. Little is known of the role of TMEM70, but it is conserved across multicellular eukaryotic organisms. It contains a conserved DUF1301 domain and two putative transmembrane regions.
MC5DN2; Transmembrane protein 70, mitochondrial