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ATP synthase membrane subunit f–pentatricopeptide repeat domain 1 fusion protein (ATP5MF-PTCD1 or ATP5J2-PTCD1) is a naturally occurring read-through fusion protein produced by transcription that spans both the ATP5MF (or ATP5J2) gene, which encodes a mitochondrial ATP synthase Fo complex subunit involved in ATP production, and the downstream PTCD1 gene, which encodes a mitochondrial protein implicated in RNA binding and translation regulation[2][3][4]. The read-through transcript and its protein product merge sequence and potentially combine functional aspects of both parent genes, but the distinct biological or pathological role of this fusion protein has not been established in the literature or clinical guidelines to date[2][5]. There are currently no drugs or therapies specifically known to target this read-through product, nor specific disease roles clearly assigned beyond those of its component genes[2][3][4].
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