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Immunogen sequence: FITKGYVIRL YHEATTDTYK AITYNAMLAE TSTVFHQNDV KIPDAKHVFT TFYAKTKSLL VNPVLFPNRE DYIHLMGYDK EEFILYMEET SEEKRHKDDK; Positive Samples: HeLa; Cellular Location: Mitochondrion inner membrane, Multi-pass membrane protein
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.
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Protein Aliases: Transmembrane protein 70, mitochondrial
Gene Aliases: 1110020A09Rik; 2210416J16Rik; MC5DN2; TMEM70
UniProt ID: (Human) Q9BUB7, (Mouse) Q921N7
Entrez Gene ID: (Human) 54968, (Mouse) 70397
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