Gene SDHAF2

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Also known as

C11orf79, PGL2, SDH5, hSDH5

Overview

SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2) is a gene that encodes a protein that plays a role in the assembly of the succinate dehydrogenase (SDH) complex, which is a mitochondrial enzyme complex involved in the citric acid cycle and the electron transport chain. The SDH complex is composed of four subunits, including SDHA, SDHB, SDHC, and SDHD, and SDHAF2 is thought to play a role in the assembly and stability of this complex. Mutations in the SDHAF2 gene have been associated with an inherited disorder called paraganglioma-pheochromocytoma syndrome type 4 (PPGL4), which is characterized by the development of benign tumors in the adrenal glands (pheochromocytomas) and/or the sympathetic nervous system (paragangliomas). These tumors can produce excessive amounts of hormones, leading to symptoms such as high blood pressure, headaches, and palpitations.

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