EFNB1

EFNB1 (Ephrin-B1) is a protein that in humans is encoded by the EFNB1 gene. This protein is a member of the ephrin family. The encoded protein is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It plays a crucial role in the migration of cells during embryogenesis.

Function

The EFNB1 gene provides instructions for making ephrin-B1, a protein that is critical for the normal development of many parts of the body. Ephrin-B1 is found in cells and tissues throughout the body, particularly in the developing nervous system and skeletal system. It is involved in the process of cell adhesion, helping cells to attach to one another and to their surroundings. Ephrin-B1 also plays a role in cell signaling, transmitting signals across the cell membrane to trigger changes in the cell.

Clinical significance

Mutations in the EFNB1 gene cause Craniofrontonasal syndrome, a rare condition that affects the development of the head and face, hands and feet, and other parts of the body. This syndrome is characterized by abnormalities of the head and face (craniofacial anomalies), abnormalities of the hands and feet, and other abnormalities of the skeleton.

See also

• Ephrin
• Eph receptor
• Craniofrontonasal syndrome

External links

• GeneCards - EFNB1