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Activin A receptor type II-like 1 (ACVRL1) is a type I cell-surface receptor for the TGF-beta superfamily of ligands. ACVRL1, similar to other type 1 receptors, has a conserved serine-threonine kinase subdomain, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. Mutations in ACVRL1 are associated with hemorrhagic telangiectasia type 2. Mutations in ACVRL1 have been linked to Fibrodysplasia Ossificans Progressiva (FOP), a rare genetic disorder characterized by the formation of bone in muscles, tendons, and other connective tissues, as well as Epicanthus.
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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
Molecular Function: serine/threonine protein kinase receptor