Isolated Atp Synthase Deficiency

Isolated Atp Synthase Deficiency, also known as isolated mitochondrial respiratory chain complex v deficiency, is related to mitochondrial complex v deficiency, nuclear type 3 and mitochondrial complex v deficiency, nuclear type 5. An important gene associated with Isolated Atp Synthase Deficiency is TMEM70 (Transmembrane Protein 70), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Related phenotypes are seizure and ataxia