Cytochrome c oxidase subunit 5B, mitochondrial pseudogene

Cytochrome c oxidase subunit 5B, mitochondrial pseudogene refers to a segment of nuclear DNA derived from mitochondrial DNA that resembles the sequence of the functional cytochrome c oxidase subunit 5B gene but has lost its protein-coding potential through mutation. Such mitochondrial pseudogenes, known as NUMTs (Nuclear mitochondrial DNA segments), are not functional genes and do not produce active protein or contribute directly to cellular metabolism. These pseudogenes can complicate genetic analyses and are primarily of interest in evolutionary or forensic studies, rather than as drug targets or biomarkers for therapy[7]. The functional gene is COX5B, which encodes a component of Complex IV (cytochrome c oxidase) of the mitochondrial electron transport chain[1][3][5]. However, a "pseudogene" is a copy that does not make a functional protein[7]. Mitochondrial pseudogenes in the nuclear genome (NUMTs) come from historical DNA transfers and are usually nonfunctional, non-coding sequences[7]. They are not considered relevant for drug development, clinical targeting, or therapeutic intervention. ENSG00000257570 is not a functionally relevant molecular target in humans; it is a pseudogene, not an enzyme, receptor, or transporter. The canonical abbreviation and other fields relating to druggability, function, biomarker status, or safety do not apply. The entry is "incorrect" as a therapeutic target because it is not functionally expressed nor relevant in disease-modifying pathways—this is key compared to the active gene COX5B. For data structuring and biomedical use, this entry is strictly a pseudogene and thus should not be mapped as a drug target.

Other names

Cytochrome c oxidase pseudogene 5BCOX5BPCOX5B pseudogene