ACVR2A: Difference between revisions
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Revision as of 04:51, 10 February 2025
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
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
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
References
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