EFNB3

EFNB3‏‎ is a gene that encodes the ephrin-B3 protein in humans. The protein is a member of the Ephrin family, which plays a crucial role in the regulation of cell adhesion, cell migration, and tissue organization.

Function

The Ephrin family members are divided into two classes, ephrin-A and ephrin-B, based on their structures and sequence relationships. The EFNB3 gene belongs to the ephrin-B class. The ephrin-B proteins have a conserved extracellular region, a single transmembrane segment, and a cytoplasmic tyrosine kinase domain. The ephrin-B proteins interact with the Eph family of receptors, which are a large family of receptor tyrosine kinases that play key roles in cell signaling, neural development, angiogenesis, and cancer.

Clinical Significance

Mutations in the EFNB3 gene have been associated with Craniofrontonasal syndrome, a rare genetic disorder that primarily affects females and is characterized by abnormalities of the head and face (craniofacial region), hands and feet, and the skeleton.

Research

Research on EFNB3 has been focused on its role in neural development and its potential involvement in cancer. Studies have shown that EFNB3 plays a critical role in the guidance of axons during neural development. In cancer, EFNB3 has been implicated in tumor growth and metastasis, although the exact mechanisms are still under investigation.

See Also

• Ephrin
• Craniofrontonasal syndrome
• Axon guidance
• Cancer