Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit (SDHA) Antibody – Rabbit Polyclonal

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

SDHA: is the catalytic subunit of succinate dehydrogenase (SDH) complex II of the mitochondrial electron transport chain. Complex II contains four subunits: the flavoprotein catalytic subunit SDHA, iron-sulfur protein SDHB, and a cytochrome b560 composed of SDHC and SDHD. Interaction with SDH5 is required for FAD attachment. Responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Defects in SDHA cause defective mitochondrial oxidative phosphorylation, giving rise to heterogeneous clinical symptoms ranging from isolated organ dysfunction to multisystem disorder. Acetylation of SDHA may control entry of the substrate into the active site, thus regulating its enzymatic activity. Acetylated SDHA may be a SIRT3 substrate SIRT3 is a mitochondrial NAD(+)-dependent deacetylase. Increased succinate levels as a consequence of SDH deficiency inhibit hypoxia inducible factor-1alpha (HIF-1alpha) prolyl hydroxylases leading to sustained HIF-1alpha expression in tumours. Defects in SDHA cause of Leigh syndrome, a severe disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.

Protein type: Tumor suppressor; EC 1.3.5.1; Carbohydrate Metabolism - citrate (TCA) cycle; Oxidoreductase; Energy Metabolism - oxidative phosphorylation; Mitochondrial

Chromosomal Location of Human Ortholog: 5p15

Cellular Component: mitochondrial inner membrane; mitochondrial respiratory chain complex II; mitochondrion; myelin sheath

Molecular Function: FAD binding; protein binding; succinate dehydrogenase (ubiquinone) activity; succinate dehydrogenase activity

Biological Process: cellular metabolic process; nervous system development; succinate metabolic process; tricarboxylic acid cycle

Disease: Cardiomyopathy, Dilated, 1gg; Leigh Syndrome; Mitochondrial Complex Ii Deficiency; Paragangliomas 5