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Beschreibung

SDHA, also known as Succinate dehydrogenase flavoprotein-mitochondrial subunit, or Flavoprotein subunit of complex II (Fp), and encoded by the gene symbol SDHA/ SDH2/ SDHF, is a member of the FAD-dependent oxidoreductase 2 family and the FRD/SDH subfamily. Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) is involved in the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Recent studies have indicated that SDHA may act as a tumor suppressor. SDHA is composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. SDHA interacts with SDHAF2/SDH5 in the process required for FAD attachment. Additionally, FDHA has been shown to interact with TRAP1. Mutations in the SDHA gene have been associated with Mitochondrial complex II deficiency (MT-C2D), a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Additionally, mutations in the SDHA gene have been implied in Leigh syndrome or Kearns-Sayre syndrome, Cardiomyopathy dilated 1GG (CMD1GG), and Paragangliomas 5 (PGL5).