ACVRL1

Description

The ACVRL1 gene, also known as ALK1, encodes a receptor protein involved in the transforming growth factor-beta (TGF-β) signaling pathway. This pathway plays a crucial role in various cellular processes, including cell growth, differentiation, and apoptosis. ACVRL1 is particularly important for vascular development and maintenance, as it mediates the effects of TGF-β on endothelial cells, the cells that line blood vessels.

Associated Diseases

• Hereditary Hemorrhagic Telangiectasia (HHT)
• Osler-Weber-Rendu Syndrome
• Pulmonary Arterial Hypertension (PAH)
• Cerebral AVM
• Juvenile Polyposis Syndrome

Did you know?

Mutations in the ACVRL1 gene are responsible for the majority of cases of Hereditary Hemorrhagic Telangiectasia (HHT), a genetic disorder characterized by abnormal blood vessel formation.