ATP synthase membrane subunit 6, pseudogene (MTATP6P1)

The ATP synthase 6 pseudogene (MTATP6P1) is a segment of nuclear DNA in humans homologous to the mitochondrial MT-ATP6 gene, which encodes an essential subunit of mitochondrial ATP synthase complex V. As a pseudogene, MTATP6P1 does not produce a functional protein, is not involved in cellular bioenergetics, and is not associated with disease or drug targeting. Functional MT-ATP6 (not the pseudogene) encodes a core subunit of the F_o domain in ATP synthase, crucial for ATP generation in mitochondria; mutations in the true MT-ATP6 cause severe mitochondrial disorders such as Leigh syndrome and NARP syndrome. Important distinction: While the functional MT-ATP6 is a critical mitochondrial enzyme component and a genuine disease gene and potential target, the pseudogene (MTATP6P1, ATP synthase 6 pseudogene, ENSG00000234604) is not a functional molecule, enzyme, receptor, or therapeutic target. Its classification as a pseudogene means it does not participate in any regular cellular, molecular, or disease processes and is excluded from therapeutic consideration.

Other names

MT-ATP6 pseudogene 1MTATP6P1ATP6 pseudogene