This product is an active protein and may elicit a biological response in vivo, handle with caution.
Activin A receptor
Activin A receptor type II like 1
Activin A receptor, type II like kinase 1
Activin receptor like kinase 1
Activin receptor-like kinase 1
Osler Rendu Weber syndrome 2
Serine/threonine protein kinase receptor R3
Serine/threonine-protein kinase receptor R3
TGF B superfamily receptor type I
TGF-B superfamily receptor type I
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.
Involvement in 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.
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 GS domain. Contains 1 protein kinase domain.