基因名称:B2M (beta-2-microglobulin)
别名: IMD43
基因ID:567
Chromosome(GRCh37) :15 Start: 45003675 End: 45011075 Strand: 1
信号通路:
靶向药: 纳武单抗(纳武利尤单抗)
派姆单抗(帕博利珠单抗)
化疗药:
简介:该基因编码与主要组织相容性复合体(MHC)I类重链在几乎所有有核细胞的表面上发现的血清蛋白。这种蛋白主要是β-折叠片结构,在某些病理条件下可以形成淀粉样纤维。编码的抗菌蛋白在羊水中显示出抗菌活性。这种基因的突变已被证明导致高凝性低蛋白血症。
This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.
B2M突变与药物:
S14FS
药物:
派姆单抗(帕博利珠单抗)
疾病:
皮肤黑色素瘤
VARIANTS
药物:
纳武单抗(纳武利尤单抗)
派姆单抗(帕博利珠单抗)
疾病:
结直肠癌