Aliases for DUX4 Gene
External Ids for DUX4 Gene
Previous GeneCards Identifiers for DUX4 Gene
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 encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of this gene from standard cDNA libraries, however, RT-PCR and in vitro expression experiments indicate that the ORF is transcribed. 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). [provided by RefSeq, Jun 2014]
GeneCards Summary for DUX4 Gene
DUX4 (Double Homeobox 4) is a Protein Coding gene. Diseases associated with DUX4 include facioscapulohumeral muscular dystrophy 1 and embryonal rhabdomyosarcoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region sequence-specific DNA binding.
UniProtKB/Swiss-Prot for DUX4 Gene
Involved in transcriptional regulation. May regulate microRNA (miRNA) expression.