SDHAP1


Description

The SDHAP1 (SDHA pseudogene 1) is a pseudo gene located on chromosome 3.

SDHAP1 is a gene that provides instructions for making a protein subunit of the succinate dehydrogenase complex (SDH). SDH is a crucial enzyme in the citric acid cycle, where it converts succinate to fumarate, and is also involved in the mitochondrial electron transport chain. This gene's mutations can lead to a range of health problems, including paraganglioma and pheochromocytoma.

The protein encoded by this gene is a subunit of the succinate dehydrogenase complex (SDH), also known as complex II of the mitochondrial electron transport chain. SDH is a key enzyme in the citric acid cycle that catalyzes the oxidation of succinate to fumarate, and it also participates in electron transport by transferring electrons from succinate to ubiquinone.

SDHAP1 is also known as SDHAL1, SDHALP1.

Associated Diseases



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