TBL1XR1(TBL1X receptor 1),癌症关联基因,基因ID:79718,该基因是包含WD40重复序列的基因家族的一员,与转肽(β)样1X连锁(TBL1X)基因序列相似。该基因编码的蛋白质被认为是核受体辅加压素(n-cor)和组蛋白脱乙酰酶3(hdac 3)复合物的组成部分,是多种转录因子转录激活所必需的。这些基因的突变与一些自闭症谱系障碍有关,一项发现表明,这种基因的单倍体不足可能是导致智力残疾和畸形的原因。在一些肿瘤中也观察到该基因的突变以及涉及该基因的反复易位[由RefSeq提供,2016年3月]This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed 。