{"symbol":"ACVRL1","synonyms":["TSR-I","HHT","ALK-1","SKR3","ACVRLK1","ALK1","HHT2","ORW2"],"name":"activin A receptor type II-like 1","description":"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]","ncbiEntrezGeneId":94,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/94","proteins":[{"symbol":"ACVL1_HUMAN","href":"/api/1.0/protein/ACVL1_HUMAN"}],"hgncRootFamilies":[{"name":"Receptor kinases","href":"/api/1.0/gene_family/Receptor+kinases"}]}