Mitochondrially encoded ATP synthase 8 pseudogene (MT-ATP8 pseudogene)

This entry refers to a **pseudogene** homologous to MT-ATP8, the mitochondrial gene encoding a subunit of the mitochondrial F-type ATP synthase complex (Complex V), which is essential for cellular energy production through oxidative phosphorylation[1][3]. However, as a pseudogene, ENSG00000242246 does **not encode a functional protein product**, is not integrated into the mitochondrial genome, and does not contribute to ATP synthesis or oxidative phosphorylation[4][6][5]. Pseudogenes are typically nonfunctional segments of DNA that arise by gene duplication or retrotransposition and acquire disabling mutations; in rare cases, their transcribed RNAs may play a regulatory role, but this has not been demonstrated for this locus[2][6]. Key point: This locus is a **non-functional pseudogene**, not a canonical therapeutic or diagnostic target, and not an expressed gene product relevant for small molecule or biologic intervention. Its annotation could lead to confusion if users are seeking bona fide targets involved in ATP synthesis or mitochondrial disease[4][5][6].

Other names

ATP8 pseudogeneMT-ATP8 pseudogene