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acvrl1

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Official Full Name
activin A receptor type II-like 1
Background
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]
Synonyms
ACVRL1; activin A receptor type II-like 1; HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1; serine/threonine-protein kinase receptor R3; TGF-B superfamily receptor type I; activin A receptor, type II-like kinase 1; ACVRLK1, ORW2; activin receptor-like kinase 1; vgb; zehn1109; hm:zehn1109; vbg; violet beauregarde

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