Double homeobox 4 like 9 (DUX4L9)

Double homeobox 4 like 9 (DUX4L9) is a human gene classified as a pseudogene, meaning it resembles a functioning gene but is typically non-functional in most contexts[5]. It is related to the DUX4 gene family, known for its roles in transcriptional regulation, myogenic differentiation, and disease association such as facioscapulohumeral muscular dystrophy (FSHD)[1][4]. While DUX4L9 has been reported to regulate the balance between MYOD1 and MYF5 expression and modulate microRNA transcription (including muscles' MIR1-1, MIR133A2, MIR133B, and MIR206), its physiological or pathological relevance is not fully established. It may play a role in muscle cell biology, such as impeding myoblast differentiation and muscle regeneration through regulatory effects on transcriptional networks; however, its functional protein-coding potential is unclear, and it is not considered a druggable target or established biomarker for therapeutic intervention[5]. Key note: DUX4L9 is often misattributed as a protein-coding gene. It is most accurately described as a pseudogene with suggested, but not definitively proven, regulatory functions in muscle biology. No established drugs, safety concerns, or clinical biomarkers are associated with DUX4L9, and it is not generally considered a direct therapeutic target[5].

Other names

Double homeobox protein 4CDUX4CDUX4cDouble homeobox protein 4, centromericDouble homeobox protein 4-like protein 9double homeobox 4 pseudogenedouble homeobox 4c