TESTING THIS GENE REQUIRES PRE AND POST GENETIC COUNSELING | PHYSICIAN SUPPORT
HOX genes play a central role during embryonic development by controlling body organisation, organogenesis, and stem cell differentiation. They can also play a role in adult processes such as embryo implantation, hematopoiesis, and endothelial differentiation.
HOXD1 is specifically expressed in mature endothelial cells. In particular, HOXD1 regulates endothelial cell migration and cell adhesion on fibronectin. Fibronectin is a high-molecular-weight glycoprotein of the extracellular matrix that binds to membrane-spanning receptor proteins called integrins. Fibronectin also binds to other extracellular matrix proteins such as collagen, fibrin, and heparan sulfate proteoglycan.
HOXD3 is a member of the HOXD cluster on chromosome 2, and it can be induced by extracellular matrix protein, Del-1, and integrin alphavbeta5 interaction on resting endothelium. Del-1 is a protein that accumulates around angiogenic blood vessels (angiogenesis is the physiological process through which new blood vessels form from pre-existing vessels).
Additionally, increased or decreased activity of certain homeobox genes has been associated with fibroids and several forms of cancer later in life, particularly ovarian cancer.