ACVRL1, Official Symbol ACVRL1provided by HGNC Official Full Name activin A receptor like type 1provided by HGNC Primary source HGNC:HGNC:175 See related Ensembl:ENSG00000139567 MIM:601284; AllianceGenome:HGNC:175 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1 Summary 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] Expression Broad expression in placenta (RPKM 37.6), lung (RPKM 28.7) and 18 other tissues See more Orthologs mouse all