SDHA

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:24781757). 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.

Paragangliomas 5

PGL5

A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.

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

• Flavoprotein subunit of complex II
• Fp
• SDHA
• SDH2
• SDHF

Database links

• entrezGene:6389
• omim:600857
• swissprot:P31040

Target type

Proteins

Molecular weight

72692Da