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DUX4

double homeobox 4

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

Publications (3)

1
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG. PLoS genetics. 2010 6:e1001181. [PubMed:21060811] [PMC:PMC2965761]
2
Immunodetection of human double homeobox 4. Geng LN, Tyler AE, Tapscott SJ. Hybridoma (2005). 2011 30:125-30. [PubMed:21529284] [PMC:PMC3132944]
3
Deregulation of DUX4 and ERG in acute lymphoblastic leukemia. Zhang J, McCastlain K, Yoshihara H, Xu B, Chang Y, Churchman ML, Wu G, Li Y, Wei L, Iacobucci I, Liu Y, Qu C, Wen J, Edmonson M, Payne-Turner D, Kaufmann KB, Takayanagi SI, Wienholds E, Waanders E, Ntziachristos P, Bakogianni S, Wang J, Aifantis I, Roberts KG, Ma J, Song G, Easton J, Mulder HL, Chen X, Newman S, Ma X, Rusch M, Gupta P, Boggs K, Vadodaria B, Dalton J, Liu Y, Valentine ML, Ding L, Lu C, Fulton RS, Fulton L, Tabib Y, Ochoa K, Devidas M, Pei D, Cheng C, et al. Nature genetics. 2016 December;48:1481-1489. (Human) [Full Text Article] [PubMed:27776115] [PMC:PMC5144107]

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For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).