Mitochondrial Complex V Deficiency, Nuclear Type 3 (MC5DN3)

Mitochondrial Complex V Deficiency, Nuclear Type 3, also known as mitochondrial complex iii deficiency, nuclear type 5, is related to mitochondrial complex v deficiency, nuclear type 5 and isolated atp synthase deficiency. An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 3 is UQCRC2 (Ubiquinol-Cytochrome C Reductase Core Protein 2), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver, and related phenotypes are hypoglycemia and increased serum lactate