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Immunogen sequence: KGYVIRLYHE ATTDTYKAIT YNAMLAETST VFHQNDVKIP DAKHVFTTFY AKTKSLLVNP VLFPNREDYI HLMGYDKEEF ILYMEETSEE KRHKDDK
Highest antigen sequence identity to the following orthologs: Mouse - 71%, Rat - 71%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Transmembrane protein 70, mitochondrial
基因别名: MC5DN2; TMEM70
UniProt ID: (Human) Q9BUB7
Entrez Gene ID: (Human) 54968