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Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial

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) (PubMed:10746566, PubMed:24781757). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity). Can act as a tumor suppressor (PubMed:20484225).

Involvement in disease

Mitochondrial complex II deficiency, nuclear type 1

MC2DN1

A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN1 inheritance is autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Leigh syndrome

LS

An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.

None

The disease is caused by variants affecting the gene represented in this entry.

Cardiomyopathy, dilated, 1GG

CMD1GG

A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

None

The disease is caused by variants affecting the gene represented in this entry.

Pheochromocytoma/paraganglioma syndrome 5

PPGL5

A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL5 inheritance is autosomal dominant.

None

The disease is caused by variants affecting the gene represented in this entry.

Neurodegeneration with ataxia and late-onset optic atrophy

NDAXOA

An autosomal dominant disorder characterized by slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment. Disease onset is usually in mid-adulthood.

None

The disease is caused by variants affecting the gene represented in this entry.

Pathway

Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1.

Post-translational modifications

Phosphorylation at Tyr-215 is important for efficient electron transfer in complex II and the prevention of ROS generation.

Acetylated. Deacetylated by SIRT3.

Sequence similarities

Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily.

Cellular localization

  • Mitochondrion inner membrane
  • Peripheral membrane protein
  • Matrix side

Alternative names

  • SDH2
  • SDHF
  • SDHA
  • SDH2
  • SDHF
  • Flavoprotein subunit of complex II
  • Malate dehydrogenase [quinone] flavoprotein subunit
  • Fp

Target type

Proteins

Primary research area

Metabolism

Molecular weight

72692Da

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