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.
