ACVR2A
ACVR2A: A Gene with a Multifaceted Role in Development and Disease
Description
ACVR2A (Activin A Receptor Type 2A) is a gene that encodes a transmembrane serine/threonine kinase receptor. It plays a crucial role in the transforming growth factor beta (TGF-β) signaling pathway, which is involved in a wide range of cellular processes, including cell growth, differentiation, and apoptosis.
ACVR2A is a type II receptor that binds to TGF-β ligands and initiates downstream signaling through the Smad proteins. Studies have demonstrated that ACVR2A is essential for embryonic development, cardiovascular function, and tissue homeostasis.
Associated Diseases
Mutations in the ACVR2A gene have been linked to several inherited disorders, including:
- Fibrodysplasia ossificans progressiva (FOP): A rare and debilitating condition characterized by the formation of extra-skeletal bone within muscles, tendons, and ligaments.
- Myxofibrosarcoma: An aggressive soft tissue cancer that typically affects the extremities.
- Pulmonary arterial hypertension (PAH): A life-threatening condition characterized by high blood pressure in the arteries that supply the lungs.
Did you Know ?
Approximately 90% of FOP cases are caused by a specific mutation in the ACVR2A gene (R206H). This mutation results in a constitutively active form of ACVR2A, leading to excessive TGF-β signaling and the formation of bone in non-skeletal tissues.
