B2M

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.

别名

IMD43

基因id

Chromosome:15 Start: 45003675 End: 45011075 Strand: 1

突变与药物

更多>>

相关基因检测

genes