EFNB1A gene on chromosome Xq12 that encodes ephrin-B1, a cell surface GPI-bound ligand for the Eph family of tyrosine kinase receptors, which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. EFNB1 binds to receptor tyrosine kinases EPHB1 and EPHA1, and induces the collapse of commissural axons/growth cones; it may play a role in orienting longitudinally projecting axons. It interacts with GRIP1 and GRIP2.
Defects of EFNB1 cause craniofrontonasal syndrome.
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