SDHAP3
Description
The SDHAP3 (SDHA pseudogene 3) is a pseudo gene located on chromosome 5.
SDHAP3 gene provides instructions for making a protein that is part of the succinate dehydrogenase complex (Complex II), a vital enzyme in the mitochondria. This complex is responsible for the oxidation of succinate to fumarate, a critical step in cellular energy production. Deficiencies in SDHAP3 can lead to mitochondrial respiratory chain defects and associated disorders.
The protein encoded by this gene is a component of the succinate dehydrogenase complex (Complex II), which catalyzes the oxidation of succinate to fumarate in the mitochondrial respiratory chain. It is a nuclear-encoded mitochondrial protein, and its deficiency can result in mitochondrial respiratory chain defects, leading to various disorders.
SDHAP3 is also known as SDHACL, SDHAL.
