菜单 基因医生

该基因编码一个包含转录因子的基本螺旋环螺旋结构域，该转录因子结合基因启动子中的mue3型e-box序列。编码蛋白促进转化生长因子β（tgfβ）信号转导下游基因的表达。该基因可能参与肾细胞癌和其他癌症的染色体易位，从而产生融合蛋白。易位伙伴包括prcc（乳头状肾细胞癌）、nono（含非pou结构域，八聚体结合）和aspscr1（肺泡软部肉瘤染色体区，候选1）等基因。选择性剪接导致多个转录变体。[由RefSeq提供，2013年8月]
This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]