Human Endoglin/CD105 Standard (人内皮糖蛋白 标准品)

ENG 分子靶点信息概述

• 分子名：ENG, endoglin
• 基因家族：CD molecules
• 别名：END; HHT1; CD105
• 曾用名：ORW1; ORW
• 全称：Osler-Rendu-Weber syndrome 1

ENG 分子靶点综述

内皮糖蛋白(Endoglin)，又称为CD105，是位于细胞膜表面的I型跨膜糖蛋白，是TGF-β受体复合物之一。它参与调控与TGF-β1、TGF-β3、Activin-A、BMP-2和BMP-7结合的应答。Endoglin被推测参与影响细胞形态和迁移的细胞骨架构成。它在心血管系统发育和血管重塑中发挥作用。在心脏发育过程中，Endoglin的表达受到调控。缺失Endoglin基因的实验小鼠由于心血管异常而死亡。在人类中，Endoglin可能参与常染色体显性疾病，为人熟知的是1型遗传性出血性毛细血管扩张症(HHT)。它会导致频繁的鼻出血、皮肤和粘膜毛细管扩张，在不同的器官(如大脑、肺和肝脏)中引起动静脉畸形。

人 Human ENG 分子靶点信息

• 分子名：ENG, endoglin
• 别称：
  • CD105
  • CD105 antigen
  • END
  • FLJ41744
  • HHT1
  • ORW
  • ORW1
• 基因序列：NCBI_Gene: 2022
• 蛋白序列：UniProtKB: P17813

人 Human ENG靶点分子功能（预测）

Enables several functions, including galactose binding activity; protein homodimerization activity; and transforming growth factor beta receptor binding activity. Contributes to BMP binding activity and transforming growth factor beta binding activity. Involved in several processes, including central nervous system vasculogenesis; regulation of transcription by RNA polymerase II; and regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in external side of plasma membrane; extracellular space; and nuclear body. Part of receptor complex. Implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Biomarker of several diseases, including artery disease (multiple); clear cell renal cell carcinoma; diabetic retinopathy; hematologic cancer (multiple); and secondary hyperparathyroidism.