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]
Alternative Names
activin A receptor type II-like 1 activin A receptor type IL activin A receptor type II-like kinase 1 Activin receptor like kinase 1 activin receptor-like kinase 1 Acvrl1 serine/threonine-protein kinase receptor R3 serine/threonine-protein kinase receptor R3 TGF-B superfamily receptor type I activin receptor-like kinase 1 SKR3 TGF-B superfamily receptor type I TSR-I