ACVRL1
Function
Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well.
Involvement in disease
Telangiectasia, hereditary hemorrhagic, 2
HHT2
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
ACVRLK1, ALK1, ACVRL1, Activin receptor type-1-like, Activin receptor-like kinase 1, Serine/threonine-protein kinase receptor R3, TGF-B superfamily receptor type I, ALK-1, SKR3, TSR-I