ALK-1 Rabbit Polyclonal Antibody

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008], catalytic activity:ATP + [receptor-protein] = ADP + [receptor-protein] phosphate., cofactor:Magnesium or manganese., 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., 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., similarity:Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily., similarity:Contains 1 GS domain., similarity:Contains 1 protein kinase domain.

ACVRL1; ACVRLK1; ALK1; Serine/threonine-protein kinase receptor R3; SKR3; Activin receptor-like kinase 1; ALK-1; TGF-B superfamily receptor type I; TSR-I