Activin receptor

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Activin receptor is a type of protein that is encoded by the ACVR1 gene in humans. It is a member of the serine/threonine kinase family and is involved in a variety of biological processes, including cell growth, differentiation, apoptosis, homeostasis, and immune response.

Structure[edit | edit source]

The activin receptor is a transmembrane protein that consists of a ligand-binding extracellular domain, a transmembrane domain, and an intracellular domain. The extracellular domain binds to activin, a member of the transforming growth factor beta (TGF-β) superfamily, while the intracellular domain contains a serine/threonine kinase domain that is responsible for signal transduction.

Function[edit | edit source]

Upon binding to activin, the activin receptor undergoes a conformational change that allows it to form a complex with other proteins, including Smad proteins. This complex then translocates to the nucleus, where it regulates the transcription of target genes.

In addition to its role in cell growth and differentiation, the activin receptor is also involved in the regulation of immune response. It has been shown to play a role in the activation of T cells, which are crucial for the body's immune response to pathogens.

Clinical significance[edit | edit source]

Mutations in the ACVR1 gene, which encodes the activin receptor, have been associated with a number of diseases, including fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition characterized by progressive ossification of soft tissues. In addition, overexpression of the activin receptor has been observed in several types of cancer, including breast cancer and prostate cancer, suggesting a potential role in tumorigenesis.

See also[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD