菜单 基因医生

这个基因编码一种具有一个SAP结构域的蛋白质。这种蛋白结合十字形和超螺旋DNA，诱导阳性的超螺旋形成闭合的环状DNA，并参与在mRNA处理过程中的剪接位点选择。涉及该区域的染色体畸变、该基因的表达增加以及抗该蛋白抗体的存在都与各种疾病有关。两个编码不同亚型的转录变体已经被发现。
This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene.