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Pseudogene similar to part of mitochondrially encoded cytochrome c oxidase I

Molecular classification
Other, Pseudogene, Nuclear mitochondrial pseudogene (numt)
01

Overview

ENSG00000225911 encodes a segment of nuclear DNA that is highly similar to a portion of the mitochondrial cytochrome c oxidase subunit I gene sequence (MT-CO1). Such pseudogenes—called "numts" (nuclear mitochondrial DNA segments)—arise from the transfer of mitochondrial DNA fragments into the nuclear genome. They are noncoding, nonfunctional sequences and not expressed as protein products. These pseudogenes cause challenges in research, especially DNA barcoding or mitochondrial disease genetics, because they may be inadvertently amplified and mistaken for genuine mitochondrial sequences, potentially confounding interpretation. However, ENSG00000225911 itself does not have a biological function, is not associated with a receptor, enzyme, or any pharmacologically relevant protein, and therefore is not a therapeutic target[5][6][10].

Other names
Mitochondrial cytochrome c oxidase I pseudogenenumt (nuclear mitochondrial DNA segment)
02

Disease associations

Other (can confuse DNA barcoding or mitochondrial gene studies due to co-amplification, but not directly implicated in disease)

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