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SDHAF2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SDHAF2 gene

The SDHAF2 gene provides instructions for a protein that helps assemble the succinate dehydrogenase enzyme, which is essential for mitochondrial energy production and tumor suppression.

Normal Function

The SDHAF2 gene provides instructions for a protein that interacts with the succinate dehydrogenase (SDH) enzyme. Specifically, the SDHAF2 protein helps attach a molecule called FAD to the SDH enzyme. FAD is a cofactor required for the enzyme to function.

The SDH enzyme is critical for mitochondria to convert energy from food. It links the citric acid cycle and oxidative phosphorylation by converting succinate to fumarate. Succinate also acts as an oxygen sensor that stabilizes hypoxia-inducible factor (HIF). Because the SDHAF2 gene helps prevent uncontrolled cell growth, it functions as a tumor suppressor.

Health Conditions Related to Genetic Changes

Hereditary paraganglioma-pheochromocytoma

Mutations in the SDHAF2 gene are identified in people with hereditary paraganglioma-pheochromocytoma type 2. This condition involves the development of noncancerous tumors associated with the nervous system.

  • A known mutation replaces the amino acid glycine with arginine at position 78 (Gly78Arg).
  • This mutation impairs the interaction between the SDHAF2 protein and the SDH complex, decreasing the attachment of the FAD cofactor.
  • The resulting nonfunctional SDH enzyme causes succinate to accumulate in the cell.
  • Excess succinate stabilizes HIF, which triggers uncontrolled cell division and the formation of new blood vessels, leading to tumor development.

Other Names for This Gene

  • C11orf79
  • FLJ20487
  • hSDH5
  • PGL2
  • SDH assembly factor 2
  • SDH5
  • SDHF2_HUMAN
  • succinate dehydrogenase assembly factor 2, mitochondrial
  • succinate dehydrogenase subunit 5, mitochondrial

Frequently Asked Questions

nnual blood pressure checks and biochemical screening (plasma free metanephrines or urinary catecholamines) are advised. Imaging of the head, neck, chest, abdomen, and pelvis with MRI or CT should be performed every 12–24 months, or sooner if symptoms arise.
Typical signs include episodic headaches, sweating, palpitations, and elevated blood pressure that may be paroxysmal. Some patients experience dizziness, anxiety, or a sensation of a mass in the neck or chest. Persistent hypertension or unexplained catecholamine excess warrants biochemical testing and imaging.
Patients should have baseline blood pressure monitoring, a 24‑hour urine catecholamine panel, and a detailed family history collected. Avoid medications that interfere with catecholamine assays (e.g., beta‑blockers) for at least 2 weeks before testing, unless medically necessary.
Patients should avoid high‑potassium foods if they develop hypertension, and limit stimulants such as caffeine and nicotine. Medications that raise blood pressure (e.g., decongestants, certain antidepressants) should be used cautiously. Discuss all supplements and over‑the‑counter drugs with a clinician to avoid interactions that could worsen catecholamine release.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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