ACVRL1
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.[5][6][7]
ACVRL1 is a receptor in the TGF beta signaling pathway. It is also known as activin receptor-like kinase 1, or ALK1.
Function
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 hereditary hemorrhagic telangiectasia (HHT) type 2, also known as Rendu-Osler-Weber syndrome 2.[7]
Pathology
Germline mutations of ACVRL1 are associated with:
- hereditary hemorrhagic telangiectasia type 2 (Rendu-Osler-Weber syndrome 2)[8]
- Pulmonary arteriovenous malformations[9]
Somatic mosaicism in ACVRL1 are associated with severe pulmonary arterial hypertension.[10]
ACVRL1 directly interacts with low-density lipoprotein (LDL), which implies that it might initiate the early phases of atherosclerosis.[11]
Abnormal activity of ACVRL1 has been found to be closely associated with idiopathic pulmonary arterial hypertension.
As a drug target
- Dalantercept is an experimental ALK1 inhibitor.[12]
Closely/family related kinases
(Not to be confused with anaplastic lymphoma kinase (ALK) )
ALK4 is ACVR1B, ALK7 is ACVR1C, and ALK5 is [part of] the TGF-β type I receptor.[13]
See also
- TGF beta signaling pathway, see summary table for ALK*
