SDHAF2

SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2) is a protein that in humans is encoded by the SDHAF2 gene. This protein is involved in the assembly of the succinate dehydrogenase (SDH) complex, a key enzyme complex in the mitochondrial respiratory chain that is directly involved in the process of cellular respiration.

Function

The SDHAF2 protein is a chaperone protein that assists in the assembly of the SDH complex. This complex, also known as complex II of the mitochondrial respiratory chain, plays a crucial role in the process of cellular respiration, where it is involved in both the citric acid cycle (or Krebs cycle) and the electron transport chain. The SDH complex is unique among the respiratory chain complexes in that it is involved in both these processes.

Clinical significance

Mutations in the SDHAF2 gene have been associated with hereditary paraganglioma-pheochromocytoma syndromes. These are rare disorders characterized by the development of tumors in the paraganglia, clusters of cells associated with the nervous system that are found near the adrenal glands.

See also

• Succinate dehydrogenase
• Mitochondrial disease
• Paraganglioma
• Pheochromocytoma

External links

• NCBI Gene
• Genetics Home Reference