菜单 基因医生

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 in some tumors. [provided by RefSeq, Mar 2016]