Tek-gen

TEK is an acronym for "Tunica interna endothelial cell kinase". This gene is located on chromosome 9p21. It codes for an endothelial receptor tyrosine kinase, which belongs to the protein tyrosine kinase TIE2 family.

The encoded protein receptor has different extracellular regions to which the ligand angiopoietin-1 binds. The receptor activation leads to an influence on embryonic vascular development.

Mutations of the TEK gene are associated with spontaneous non familial venous vascular malformations. Mutations for familial cases of Blue Rubber-Bleb-Naevus Syndrome are also described.

It codes for a receptor belonging to the protein tyrosine kinase Tie2 family. The encoded protein receptor has extracellular regions that include immunoglobulin- and epidermal growth factor (EGF)-like domains and fibronectin III-like structures. The ligand angiopoietin-1 binds to this receptor. The receptor activation leads to an influence on embryonic vascular development. Mutations of this gene are associated with spontaneous non-familiar venous vascular malformations.