ACVRL1

Full Name: Activin A Receptor Like Type 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.

Synonyms: Activin A Receptor Type II-Like 1; TGF-B Superfamily Receptor Type I; EC 2.7.11.30; ACVRLK1; TSR-I; ALK-1; ALK1; SKR3; Activin A Receptor, Type II-Like Kinase 1; Activin Receptor-Like Kinase 1; EC 2.7.11; HHT2; ORW2; HHT