ACVR2A
ACVR2A is a human gene that encodes for the protein Activin A receptor type 2A. This protein is a part of the TGF beta receptor superfamily, and it plays a crucial role in various biological processes, including cell growth, differentiation, and apoptosis.
Function[edit | edit source]
The ACVR2A gene is involved in the Activin and Inhibin signaling pathways. These pathways are essential for the regulation of a wide range of biological processes, including cell proliferation, differentiation, apoptosis, metabolism, homeostasis, immune response, wound healing, and endocrine function.
Clinical significance[edit | edit source]
Mutations in the ACVR2A gene have been associated with various diseases, including Fibrodysplasia ossificans progressiva, a rare and disabling genetic condition characterized by progressive ossification of soft tissues.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
