ACVRL1

Serine/threonine-protein kinase receptor R3 is an is_associated_with::enzyme that in humans is encoded by the ACVRL1 is_associated_with::gene.

ACVRL1 is a receptor in the is_associated_with::TGF beta signaling pathway. It is also known as activin receptor-like kinase 1, or ALK1.

Pathology
is_associated_with::Germline mutations of ACVRL1 are associated with:
 * is_associated_with::hereditary hemorrhagic telangiectasia type 2 (Rendu-Osler-Weber syndrome 2)
 * Pulmonary is_associated_with::arteriovenous malformations

is_associated_with::Somatic mosaicism in ACVRL1 are associated with severe is_associated_with::pulmonary arterial hypertension.