ACVRL1
ACVRL1 (Activin A receptor type II-like 1) is a protein that in humans is encoded by the ACVRL1 gene. This gene is also known by several other names, including ALK1 and HHT2. The ACVRL1 protein is a type of receptor that is involved in the TGF beta signaling pathway, which plays a crucial role in cellular function and development.
Function[edit | edit source]
The ACVRL1 protein is a receptor for members of the transforming growth factor-beta (TGF-beta) family. TGF-beta is a cytokine that regulates a wide range of biological processes including cell growth, differentiation, apoptosis, and homeostasis. The ACVRL1 protein is part of the TGF-beta signaling pathway, which is involved in a variety of cellular functions including cell growth, cell differentiation, apoptosis, cellular homeostasis and other cellular functions.
Clinical significance[edit | edit source]
Mutations in the ACVRL1 gene are associated with hereditary hemorrhagic telangiectasia type 2 (HHT2), a multisystemic vascular dysplasia. This condition is characterized by recurrent epistaxis (nosebleeds), telangiectases in skin and mucosa, arteriovenous malformations in lungs, liver and brain, and gastrointestinal bleeding.
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