LRP4与人类罕见遗传病

LRP4 and human rare genetic diseases

低密度脂蛋白受体相关蛋白4(low-density lipoprotein receptor-related protein 4,LRP4)在2010年被报道确认为CLS型并指综合征(Cenani-Lenz syndactyly syndrome)的致病基因,相继有文献报道了LRP4的突变会造成17型先天性肌无力症(myasthenic syndrome,congenital 17)和二型硬化性骨病(sclerosteosis 2)。LRP4参与调节经典WNT信号通路和MAPK/JNK信号通路,在神经肌肉接头中与MUSK/AGRIN组成复合物,调节突触后转化。LRP4参与肢端、神经肌肉接头、肾脏、乳腺和牙齿的发育形成,参与骨代谢进程。现将重点介绍LRP4在人类中所引起的3种单基因疾病和从遗传发育角度综述目前关于LRP4的研究进展,对未来深入研究LRP4在脊椎动物早期发育中的功能机制提供一定的参考。

4 gene（LRP4）was found Low-density causative lipoprotein receptor-related Recent protein also identified as Cenani-Lenz syndactyly myasthenic the syndrome syndrome JNK gene in 2010.studies involved the mutations in LRP4 cause signal congenital 17 and sclerosteosis 2.LRP4 is in regulating the canonical binding WNT pathway and MAPK/signal pathway;and in the neuromuscular junction,the LRP4 with MUSK/AGRIN junction,complex mammary regulates glands postsynaptic teeth transformation.LRP4 participates bone in limbs,process.neuromuscular kidneys,and development,as well LRP4 as and the metabolism Here we summarize of three The kinds of will human provide rare a genetic reference diseases caused by latest developmental mechanism and genetic studies early LRP4.review for further studies on the functional of LRP4 in the development of vertebrates.