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DUX4 is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants.
Gene Name: | double homeobox 4 |
Synonyms: | DUX4, Double homeobox protein 10, Double homeobox protein DUX10, Double homeobox 4, Double homeobox protein 4/10, Double homeobox protein 4, DUX10 |
Target Sequences: | NM_033178 NP_149418.3 Q9UBX2 |
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