EFNB1

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 ?
FGFR2, FGFR3, FGFR1, TWIST1, and EFNB1 genes play a role in the syndromic craniosynostosis presenting with craniofacial abnormalities, including hypertelorism, proptosis, and midfacial hypoplasia.
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.
In the renal cortex they confirmed differences in expression of apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), alpha-1-microglobulin/bikunin precursor (AMBP), apolipoprotein E (APOE), cluster of differentiation 36 (CD36), ephrin-B1 (EFNB1), NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 (NDUFAF1), peroxiredoxin 5 (PRDX5), REN, renin binding protein (RENBP), solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), syntaxin 4 (STX4), and troponin T type 2 (cardiac) (TNNT2) mRNAs, and the miRNAs hsa-miR-21, hsa-miR-126, hsa-miR-181a, hsa-miR-196a, hsamiR-451, hsa-miR-638, and hsa-miR-663.
Genetic studies have helped in elucidating the molecular bases of this complex and heterogeneous group of developmental disorders, thanks to the identification in a number of syndromes (e.g., 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).