SDHAP2
Description
The SDHAP2 (SDHA pseudogene 2) is a pseudo gene located on chromosome 3.
SDHAP2 is a human gene that encodes a protein involved in the citric acid cycle and mitochondrial electron transport chain. It is a subunit of the succinate dehydrogenase complex, which catalyzes the oxidation of succinate to fumarate. Mutations in SDHAP2 can lead to various metabolic disorders, including paraganglioma and pheochromocytoma.
The SDHAP2 gene encodes a protein that is part of the succinate dehydrogenase (SDH) complex, an enzyme involved in the citric acid cycle. This complex is also known as Complex II of the mitochondrial electron transport chain. The SDH complex catalyzes the oxidation of succinate to fumarate, which is coupled to the reduction of ubiquinone to ubiquinol. The protein encoded by SDHAP2 is a subunit of the SDH complex that is required for the assembly and stability of the complex. Mutations in the SDHAP2 gene can lead to various metabolic disorders, including paraganglioma and pheochromocytoma.
SDHAP2 is also known as SDHAL2, SDHALP2.
