ANGPT1 Gene

The ANGPT1 gene (ANGPT1 stands for "angiopoietin 1") is a protein-coding gene located on chromosome 8q23.1. The ANGPT1 gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine protein kinase receptor.

The protein Angiopoietin 1, encoded by this gene, is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. Angiopoietin 1 binds and activates the TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. The protein plays an important role in regulating angiogenesis, survival, proliferation, migration, adhesion, and cell spreading of endothelial cells, reorganization of the actin cytoskeleton, and also in maintaining vascular stability in quiescent vessels. It is required for normal angiogenesis and heart development during embryogenesis. After birth, it activates or inhibits angiogenesis. Mediates the maturation/stability of blood vessels. Angiopoietin 1 participates in endothelial developmental processes distinct from those of VEGF. The protein appears to play a critical role in mediating the two-way interactions between the endothelium and the surrounding matrix and mesenchyme.

1. Bafunno V et al (2018) Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. J Allergy Clin Immun 141: 1009-1017.

2. Santacroce R et al (2021) The genetics of hereditary angioedema: A review J Clin Med 10: 2023.

3. Zuraw BL (2018) Hereditary angioedema with normal C1 inhibitor: four types and counting. J Allergy Clin Immun 141: 884-885.