基因名称:MYD88 (myeloid differentiation primary response 88)
别名: MYD88D
基因ID:4615
Chromosome(GRCh37) :3 Start: 38179969 End: 38184513 Strand: 1
信号通路: 免疫相关
炎症相关
凋亡抑制
靶向药: 伊布替尼,依鲁替尼
IMG-2005-5 IRAK-1/4 Inhibitor
化疗药:紫杉醇
简介:该基因编码一种在先天性和适应性免疫反应中起核心作用的细胞溶质适配器蛋白。这种蛋白在白细胞介素-1和toll样受体信号通路中起重要的信号转导作用。这些途径调节许多促炎基因的激活。编码蛋白由一个N端死亡结构域和一个C端toll-interleukin1受体结构域组成。这种基因缺陷的患者对化脓性细菌感染的易感性增加。交替剪接导致多个转录变体。This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants.
MYD88突变与药物:
L265P
药物:
伊布替尼,依鲁替尼
IMG-2005-5 IRAK-1/4 Inhibitor 疾病:
慢性淋巴细胞白血病 Waldenstr_m巨球蛋白血症
OVEREXPRESSION
药物:
紫杉醇 疾病:
乳腺癌