ACVRL1 is 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. This 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.
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Protein Aliases: 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; ALK-1; Serine/threonine-protein kinase receptor R3; SKR3; TGF-B superfamily receptor type I; TSR-I
Gene Aliases: ACVRL1; ACVRLK1; AI115505; AI427544; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3; TSR-I