Ephrin-B1

Ephrin-B1 is a transmembrane B-class ephrin encoded by EFNB1 on the X chromosome. Its cytoplasmic tail contains conserved tyrosine residues and a C-terminal PDZ-binding motif, allowing it to transmit reverse signals into the ligand-bearing cell, a defining difference from the GPI-anchored A-class ephrins. Through bidirectional signaling with EphB receptors, ephrin-B1 governs boundary formation, cell sorting and compartmentalization during embryogenesis, including craniofacial and vascular development. Heterozygous loss-of-function mutations in EFNB1 cause craniofrontonasal syndrome, an X-linked disorder with coronal synostosis, hypertelorism and nail anomalies in which males are paradoxically more severely affected. Ephrin-B1 also regulates bone remodeling and postnatal angiogenesis.