基因名称：DUX4 （double homeobox 4）
别名： DUX4L
基因ID：100288687
Chromosome(GRCh37) ：HG1032_PATCH Start: 190989171 End: 190990605 Strand: 1
信号通路：
靶向药：
化疗药：
简介：该基因位于第4q号染色体亚水平区的d4z4重复序列中。d4z4重复序列的长度具有多态性；在第10号染色体上发现了类似的d4z4重复序列。每个d4z4重复单元都有一个开放的阅读框（称为dux4），它编码两个同源框；重复数组和ORF在其他哺乳动物中是保守的。已报道编码蛋白作为成对同源域转录因子1（pitx1；geneid 5307）的转录激活物发挥作用。大卫星重复序列的收缩导致常染色体显性面部肱骨肌营养不良（FSHD）。选择性剪接导致多个转录变体。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. 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.
DUX4突变与药物：
DUX4 FUSIONS
药物：
Ziv-阿柏西普
疾病：
急性淋巴细胞白血病
DUX4-IGH
药物：
Ziv-阿柏西普
疾病：
小儿B细胞急性淋巴细胞白血病
