Disease:Defects in EFNB1 are a cause of craniofrontonasal syndrome (CFNS) [MIM:304110]; also known as craniofrontonasal dysplasia (CFND) . CFNS is an X-linked inherited syndrome characterized by hypertelorism , coronal synostosis with brachycephaly , downslanting palpebral fissures , clefting of the nasal tip , joint anomalies , longitudinally grooved fingernails and other digital anomalies. ,Function:Binds to the receptor tyrosine kinases EPHB1 and EPHA1. Binds to , and induce the collapse of , commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons. ,induction:By TNF-alpha. ,PTM:Inducible phosphorylation of tyrosine residues in the cytoplasmic domain. ,similarity:Belongs to the ephrin family. ,subunit:Interacts with GRIP1 and GRIP2. ,tissue specificity:Heart , placenta , lung , liver , skeletal muscle , kidney , pancreas. ,
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