The sdha gene encodes a subunit of succinate dehydrogenase, which is part of mitochondrial complex ii in the electron transport chain for oxidative phosphorylation. The protein localizes to the mitocho...[+]

The sdha gene encodes a subunit of succinate dehydrogenase, which is part of mitochondrial complex ii in the electron transport chain for oxidative phosphorylation. The protein localizes to the mitochondria and functions in aerobic respiration by catalyzing the oxidation of succinate to fumarate. In oocytes, its activity influences metabolic regulation during maturation. [-]

             mitochondrial complex II deficiency
             dilated cardiomyopathy 1GG
             Leigh disease
             gastrointestinal stromal tumor

          MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1; MC2DN1
          CARDIOMYOPATHY, DILATED, 1GG; CMD1GG
          PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; PPGL5

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD