别 名:Activin A receptor; Activin A receptor type II like 1; Activin receptor like kinase 1; Activin receptor-like kinase 1; ACVL1_HUMAN; ACVRL1; ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; Osler Rendu Weber syndrome 2; Serine/threonine protein kinase receptor R3; Serine/threonine-protein kinase receptor R3; SKR3; TGF B superfamily receptor type I; TGF-B superfamily receptor type I; TSR-I; TSR1.
分 子 量:53kDa
细胞定位:细胞膜
纯化方法:affinity purified by Protein A
储 存 液:0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
产品介绍:在配体结合时,形成由两种 II 型和两种 I 型跨膜丝氨酸/苏氨酸激酶组成的受体复合物。 II型受体磷酸化并激活自磷酸化的I型受体,然后结合并激活SMAD转录调节因子。 TGF-β 受体。 也可以结合激活素。
Function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for TGF-beta. May bind activin as well.
Subcellular Location: Membrane.
DISEASE: Defects in ACVRL1 are the cause of hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]; also known as Osler-Rendu-Weber syndrome 2 (ORW2). HHT2 is an autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary, cerebral and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia.