Full name: activin A receptor like type 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3; TSR-I

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

Gene size: 16418bp

Exon count: 11