Aliases for SDHA Gene
External Ids for SDHA Gene
Previous HGNC Symbols for SDHA Gene
Previous GeneCards Identifiers for SDHA Gene
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]
GeneCards Summary for SDHA Gene
SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A) is a Protein Coding gene. Diseases associated with SDHA include Mitochondrial Complex Ii Deficiency and Cardiomyopathy, Dilated, 1Gg. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Citrate cycle (TCA cycle). Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is ENSG00000286001.
UniProtKB/Swiss-Prot Summary for SDHA Gene
Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:24781757). Can act as a tumor suppressor (PubMed:20484225).