" /> DUX4 wt Allele - CISMeF





Preferred Label : DUX4 wt Allele;

NCIt synonyms : DUX10; Double Homeobox 4 wt Allele; Double Homeobox 10 Gene; DUX4L; Double Homeobox 4 Like Gene;

NCIt definition : Human DUX4 wild-type allele is located in the vicinity of 4q35.2 and is approximately 2 kb in length. This allele, which encodes double homeobox protein 4, is involved in the modulation of transcription. This gene is within a D4Z4 repeat array; contraction of this macrosatellite repeat is associated with facioscapulohumeral muscular dystrophy (FSHD). A chromosomal translocation t(4;19)(q35;q13) involving this gene and the CIC gene is associated with soft tissue sarcoma.;

NCIt note : The DUX4 gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. A similar D4Z4 repeat array has been identified on chromosome 10. One of the D4Z4 repeats on chromosome 10 may be involved in a translocation t(10;19)(q26;q13) with the CIC gene, and may be associated with with soft tissue sarcoma. (EntrezGene and Atlas of Genetics and Cytogenetics in Oncology and Haematology);

GenBank Accession Number : NM_001293798;

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16/05/2024


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