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]

  • Tricarboxylic acid cycle
  • Succinate metabolic process
  • Mitochondrial electron transport, succinate to ubiquinone
  • Nervous system development
  • Electron transport chain
  • Mitochondrial complex ii deficiency
  • Cardiomyopathy, dilated, 1gg
  • Paragangliomas 5
  • Leigh syndrome
  • Hereditary paraganglioma-pheochromocytoma syndromes

SDHA. Johnhfst.

Gene Location