MYCBP2 - MYC binding protein 2 Gene

中文名称：MYC 结合蛋白 2

种属: Homo sapiens

同用名: PAM; Phr; PHR1; Myc-bp2

关于 MYCBP2

功能概要

该基因编码 E3 泛素蛋白连接酶和 PHR (Phr1/MYCBP2、highwire 和 RPM-1) 蛋白家族成员。编码的蛋白质在发育中的神经系统中的轴突引导和突触形成中发挥作用。在哺乳动物细胞中，这种蛋白质调节 cAMP 和 mTOR 信号通路，还可以调节自噬。已在急性淋巴细胞白血病患者中观察到该基因的表达减少，并且已在患有罕见遗传性视力缺陷的患者中发现该基因的突变。[RefSeq 提供，2017 年 3 月]

This gene encodes an E3 ubiquitin-protein Ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate Autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]