基因名:
ACVRL1
产品别名:
ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3; TSR-I; ACVRL1; activin A receptor like type 1; activin A receptor like type 1; serine/threonine-protein kinase receptor R3; TGF-B superfamily receptor type I; activin A receptor type II-like 1; activin A receptor type IL; activin A receptor, type II-like kinase 1; 激活素受体样激酶1; 激活素受体样激酶1(ALK1);
背景信息:
Activin Receptor-Like Kinase 1 (ALK-1) is a type I cell-surface receptor for the TGF-βsuperfamily of ligands. ALK-1 has a high degree of similarity in serine-threonine kinase subdomains, a glycine and serine rich region preceding the kinase-domain, and a C-terminal tail with other activin receptor-like kinase proteins. The mutations of ALK-1 are associated with Rendu-Osler-Weber syndrome 2, this suggests ACVRL1 is associated with blood vessel development and repair.