Endogenous

SDHA

Succinate dehydrogenase [ubiquinone] flavoprotein subunit mitochondrial

SDHA ;
SDH2 ;
SDHF ;
Succinate dehydrogenase [ubiquinone] flavoprotein subunit ;
mitochondrial ;
Flavoprotein subunit of complex II ;
Fp

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],

Catalytic activity:Succinate + ubiquinone = fumarate + ubiquinol.,cofactor:FAD.,Disease:Defects in SDHA are a cause of complex II mitochondrial respiratory chain deficiency [MIM:252011]; also known as succinate CoQ reductase deficiency. Defects of oxidative phosphorylation give rise to heterogeneous clinical symptoms ranging from isolated organ dysfunction to multisystem disorder. A deficiency of complex II represents a rare cause of mitochondrial encephalomyopathy, leukodystrophy, late-onset optic atrophy and ataxia, myopathy with exercise intolerance, and isolated cardiomyopathy.,Disease:Defects in SDHA are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.,Function: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).,miscellaneous:The complex, present in mitochondria, can be degraded to form EC 1.3.99.1, which no longer reacts with ubiquinone.,pathway:Carbohydrate metabolism; tricarboxylic acid cycle.,sequence Caution:Differs extensively from that shown.,similarity:Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily.,subunit:Component of complex II composed of four subunits: the flavoprotein (FP) sdha, iron-sulfur protein (IP) sdhb, and a cytochrome b560 composed of sdhc and sdhd.,

Cytoplasmic

>>Citrate cycle (TCA cycle) ;
>>Oxidative phosphorylation ;
>>Metabolic pathways ;
>>Carbon metabolism ;
>>Thermogenesis ;
>>Non-alcoholic fatty liver disease ;
>>Alzheimer disease ;
>>Parkinson disease ;
>>Amyotrophic lateral sclerosis ;
>>Huntington disease ;
>>Prion disease ;
>>Pathways of neurodegeneration - multiple diseases ;
>>Chemical carcinogenesis - reactive oxygen species ;
>>Diabetic cardiomyopathy