In Marfan's, the genetic defects that are at fault usually hobble the gene for fibrillin, a protein that combines with elastin to form elastic fibers. 出现在马方氏症候群的基因缺失,通常是负责纤维素(与弹性素结合可形成弹性纤维的蛋白质)的基因受到了影响;
The main component of microfibrils is a glycoprotein called fibrillin.
这些微纤丝的主要成分是一种糖蛋白,叫做原纤蛋白。
Osmosis-遗传
In addition to being part of microfibrils, fibrillin also regulates tissue growth.
原纤蛋白除了构成微纤丝之外,还能调节组织生长。
Osmosis-遗传
The FBN1 gene encodes Fibrillin-1 protein, one of three fibrillin subtypes.
FBN1基因编码三种原纤蛋白之一的原纤蛋白1。
Osmosis-遗传
Marfan syndrome is caused by mutations in a gene called FBN1, or fibrillin 1, on chromosome 15.
马方综合征是由于15号染色体上FBN1(原纤蛋白1)基因突变所致。
英语百科
Fibrillin
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.
Fibrillin is secreted into the extracellular matrix by fibroblasts and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffold
for deposition of elastin.