该基因产物属于高度同源滑膜肉瘤X(SSX)断点蛋白家族。这些蛋白可能作为转录抑制因子发挥作用。它们还能够激发癌症患者的自发体液和细胞免疫反应,是基于癌症疫苗的免疫治疗的潜在有用靶点。这个基因,以及ssx2和ssx4家族成员,参与了t(x;18)(p11.2;q11.2)易位,其特征性见于所有滑膜肉瘤。这种易位导致18号染色体滑膜肉瘤易位基因与X号染色体SSX基因的融合。编码的杂交蛋白可能负责转化活性。这种基因的选择性剪接导致多种转录变异。在X染色体上发现了一个相关的假基因。
The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX2 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome X.
基因名: | SSX1 |
别名: | CT5.1,SSRC |
基因ID: | 6756 |
Chromosome: (GRCh37) | HG1436_HG1432_PATCH Start: 48114716 End: 48126843 Strand: 1 |
信号通路: |