What is ACVRL1?

What is ACVRL1?

ACVRL1 is a receptor in the TGF beta signaling pathway. It is also known as activin receptor-like kinase 1, or ALK1 . This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands.

What is the pathophysiology of systemic mosaicism in ACVRL1?

Somatic mosaicism in ACVRL1 are associated with severe pulmonary arterial hypertension. ACVRL1 directly interacts with low-density lipoprotein ( LDL ), which implies that it might initiate the early phases of atherosclerosis. Abnormal activity of ACVRL1 has been found to be closely associated with idiopathic pulmonary arterial hypertension .

Is the ACVRL1 gene a marker for telangiectasia?

A novel intron mutation in ACVRL1 gene is associated with familial hereditary hemorrhagic telangiectasia. The balance in signalling through either ALK-1 or ALK-5 regulates leptin expression in mesenchymal stem cells. ACVRL1 gene expression is significantly corellated with advanced tumor stages and it is a useful marker for prognosis.

Is ACVRL1 a prognostic biomarker in metastatic colorectal cancer?

ACVRL1 expression could serve as a prognostic biomarker in metastatic colorectal cancer patients receiving chemotherapy and bevacizumab. Heterozygous SNP, rs372023206, was found in all tested patients with idiopathic pulmonary hypertension (heterozygosity).