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 ?
A video that she captured over a 16-hour period shows purple cells that produce one extra molecule the protein Ephrin-B1 that the green cells dont have, but can detect.
It happens in an X-linked genetic disorder called craniofrontonasal syndrome (CFNS), in which mutations in the Ephrin-B1 gene cause head and face deformities.
ONeill, who works in the lab of Jeffrey Bush, PhD, captures these videos to help her decode the molecular steps that link Ephrin-B1 mosaicism to cell sorting.
Previous studies have revealed that a mutation in a gene called ephrin-B1 caused abnormalities in facial development, but researchers were uncertain of how.
Bush, PhD, Postdoctoral Fellow, Developmental and Regenerative Biology, both at Mount Sinai School of Medicine, studied mice embryos that were genetically engineered to have a mutation in the ephrin-B1 gene.
They determined that ephrin-B1 controls craniofacial development by signaling cells to multiply and when there is a mutation in this gene, it causes anomalies in the cell proliferation process
For EphA7, EphB2, EphB4, EphB6, ephrin-B1, ephrin-B2, and ephrin-B3, immunohistochemistry was established to visualize some conclusive patterns of tissue-specific expression.
Immunohistochemistry was performed for EphA7, EphB2, EphB4, EphB6, ephrin-B1, ephrin-B2, and ephrinB3.
Ephrin-B1 transduces signals to activate integrin-mediated migration, attachment and angiogenesis.