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.

基因名:DUX4
别名:DUX4L
基因ID:100288687
Chromosome:
(GRCh37)
HG1032_PATCH Start: 190989171 End: 190990605 Strand: 1
信号通路: