Also known asACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
The ACVRL1 gene provides instructions for making a protein called activin A receptor type II-like 1. This protein is a type of receptor found on the surface of certain cells, including cells in the blood vessels, heart, and liver. Receptors are proteins that receive chemical signals from outside the cell and transmit them into the cell, allowing the cell to respond to the signal. The ACVRL1 protein is activated by a signaling protein called activin A, which plays a role in the development and maintenance of blood vessels and in the regulation of blood pressure.
Mutations in the ACVRL1 gene can cause a rare disorder called hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. HHT is characterized by the development of abnormal blood vessels in the skin, mucous membranes, and organs, which can cause bleeding and other symptoms. Symptoms of HHT can include nosebleeds, skin abnormalities, and problems with the digestive or respiratory systems. Treatment for HHT may include medications to control bleeding, surgery to remove abnormal blood vessels, and other medical therapies.