ALK1

ALK1 (Activin receptor-like kinase 1) is a protein encoded by the ACVRL1 gene in humans. It is a type I cell-surface receptor for the TGF-beta superfamily of ligands.

Function

ALK1 is a type I receptor for the transforming growth factor beta (TGF-beta) family of ligands. It is expressed on endothelial cells and plays a crucial role in angiogenesis and vascular development. The protein is part of the TGF-beta signaling pathway, which regulates a variety of biological processes, including cell growth, cell differentiation, apoptosis, and homeostasis.

Clinical significance

Mutations in the ACVRL1 gene, which encodes ALK1, are associated with hereditary hemorrhagic telangiectasia type 2 (HHT2), a multisystemic vascular dysplasia. This condition is characterized by recurrent epistaxis (nosebleeds), mucocutaneous and gastrointestinal telangiectases, and arteriovenous malformations (AVMs) in specific organs.

Research

Research into ALK1 has focused on its role in angiogenesis and vascular development, as well as its potential as a therapeutic target in diseases such as cancer. Inhibition of ALK1 signaling has been shown to reduce tumor growth and angiogenesis in preclinical models.

See also

• Activin
• Transforming growth factor beta
• Hereditary hemorrhagic telangiectasia
• Angiogenesis
• Vascular development

References

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