MAML2基因编码功能及结构描述
这个基因编码的蛋白质是一个主脑样蛋白质家族的成员。所有家族成员都富含脯氨酸和谷氨酰胺，并且包含一个保守的碱性结构域，该结构域在其n-末端结合notch受体（icn1-4）的细胞内结构域的锚蛋白重复结构域，在其c-末端结合一个转录激活结构域。该蛋白与cbf1、无毛抑制因子、lag-1（csl）与icn相互作用形成的延长沟结合，并积极调节notch信号。该基因在一些b细胞源性淋巴瘤中高表达。导致crtc1和crtc3融合蛋白的易位与粘液表皮样癌的发生有关，而cxcr4的易位与慢性淋巴细胞白血病（cll）有关。在聚谷氨酸束中观察到拷贝数的变化。[由RefSeq提供，2015年1月]
The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]
