MT-ND3 pseudogene 7 (MTND3P7)

MT-ND3 pseudogene 7 (MTND3P7) is a pseudogene annotated within the human genome that shares sequence similarity to the mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 (MT-ND3), which is a functional gene on mitochondrial DNA. However, as a pseudogene, MTND3P7 does not encode a functional protein and is not implicated as a therapeutic target or biomarker. The functional MT-ND3 gene plays a critical role in mitochondrial electron transport and oxidative phosphorylation, and pathogenic variants of MT-ND3 are linked to mitochondrial disorders such as Leigh syndrome and Leber hereditary optic neuropathy[1][2][3][4]. There are currently no studies, drugs, or disease associations directed at MTND3P7, distinguishing it from its functional counterpart. MTND3P7 must not be confused with MT-ND3, which is a well-characterized therapeutic and diagnostic target due to its role in mitochondrial bioenergetics and disease. Pseudogenes such as MTND3P7 may have regulatory or evolutionary significance, but no such functions have been identified or validated for this locus[5].

Other names

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 7MTND3P7