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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
- Activin
- Transforming growth factor beta
- Hereditary hemorrhagic telangiectasia
- Angiogenesis
- Vascular development
References[edit | edit source]
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