Entrez gene ID | | 22947 |
Official gene symbol | | DUX4 |
Full name | | double homeobox, 4 |
Aliases | | ,DUX10, |
Gene summary | | This gene 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 contains two homeoboxes; the repeat-array and ORF is conserved in other mammals. There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments indicate that the ORF is transcribed and 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 microsatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq] |
Location | | Chromosome: 4 Locus: 4q35 |
Gene position | | 191005267 - 191006883 Map Viewer |
Gene orientation | | plus |
Gene size | | 1617 bp |
Gene sequence |
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OMIM ID | | 606009 |
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