菜单 基因医生

该基因编码一个包含多个结构域的蛋白质，包括cxxc锌指、三个phd锌指、两个fy丰富结构域和一组（杂色抑制、zeste增强和trithorax）结构域。set结构域是一个保守的c-末端结构域，它是mll家族蛋白的特征。这种基因在成人组织中广泛表达。在实体瘤细胞系中也被扩增，可能与人类癌症有关。已经报道了该基因的两个编码不同亚型的选择性剪接转录变体，但是，较短转录的全长性质尚不清楚。[由RefSeq提供，2008年7月]
This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]