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The “double homeobox 4 pseudogene” (commonly annotated with identifiers such as DUX4L1, DUX4L4, DUX4L8, or other related aliases) refers to a pseudogene within the double homeobox (DUX) repeat family, located in the D4Z4 macrosatellite repeat array of chromosome 4q. Pseudogenes in this family are not thought to produce functional proteins and are generally considered transcriptionally silent, distinguishing them from the protein-coding DUX4 gene, which is a pathogenic transcription factor in facioscapulohumeral muscular dystrophy. There is currently no evidence that the DUX4 pseudogenes, including ENSG00000272319 (Double homeobox 4 pseudogene), encode active protein or function as a therapeutic target. Therefore, this gene is not a receptor, enzyme, or other druggable target and should not be confused with the functional DUX4 gene involved in disease.
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