EFNB1


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EFNB1

A 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.
 
Molecular pathology
Defects of EFNB1 cause craniofrontonasal syndrome.
References in periodicals archive ?
Apert, Crouzon, Pfeiffer, and Saethre-Chotzen craniosynostosis) of mutations in fibro-blast growth factor receptor (FGFR) [7] genes and the TWIST1, MSX2, EFNB1, and ALPL genes (1, 2).
The variations in the expression of 17 genes (underlined in Table 2) are involved in specific neuronal pathways, such as neuronal cell structure (GPM6B, PRPH, RELN), neural signaling and development (HOXB2, ELAVLI, EFNB1, NRG2, NELL1, MDK, GFRA1), synaptogenesis and steroid biosynthesis (SYCP2, PCDH17, STX1B2, SCG5, Nstage 4 diseasel, GATA3, NROB1).