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About: TMEM70     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:HumanGene, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingBiomoleculegeneBiomoleculeGeneHumanGene New Facet based on Instances of this Class

Transmembrane protein 70 is a protein that in humans is encoded by the TMEM70 gene. It is a transmembrane protein located in the mitochondrial inner membrane involved in the assembly of the F1 and Fo structural subunits of ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalo-cardiomyopathy due to ATP synthase (Complex V) deficiency, causing a wide variety of symptoms including 3-methylglutaconic aciduria, lactic acidosis, mitochondrial myopathy, and cardiomyopathy.