ACVRL1 gene

The ACVRL1 gene (ACVRL1 stands for: Activin A Receptor Like Type 1) also called HHT2 (HHT = hereditary hemorrhagic telangiectasia) is a protein-coding gene located on gene 12q13.13. An important paralog of this gene is ACVR1.

The ACVRL1 gene encodes a type I cell surface receptor for the TGF-beta superfamily of ligands. It shares a high degree of similarity with other type I receptors in the serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) that precedes the kinase domain, and a short C-terminal tail.

The encoded protein, also known as ALK1, has similar domain structures to other closely related ALK or activin receptor-like kinase proteins, which form a subfamily of receptor serine/threonine kinases.

1. Wang G et al. (2022) Endothelial progenitor cells stimulate neonatal lung angiogenesis through FOXF1-mediated activation of BMP9/ACVRL1 signaling. Nat Commun 13:2080.
2. Kritharis A et al. (2018) Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective. Haematologica 103:1433-1443.