EPHA7
EPHA6
The EPHA6 gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. These receptors and their ligands, the ephrins, are crucial for numerous developmental processes, particularly in the nervous system. EPHA6 is one of the Eph receptors that bind to ephrin-A ligands, playing a significant role in cell signaling and communication.
Structure[edit | edit source]
EPHA6 is a transmembrane protein that consists of several domains:
- Extracellular domain: This domain is responsible for binding to ephrin ligands. It contains a ligand-binding domain, a cysteine-rich domain, and two fibronectin type III repeats.
- Transmembrane domain: This hydrophobic region anchors the receptor in the cell membrane.
- Intracellular domain: This domain includes a juxtamembrane region, a kinase domain, a sterile alpha motif (SAM), and a PDZ-binding motif. The kinase domain is responsible for the receptor's enzymatic activity, which phosphorylates tyrosine residues on target proteins.
Function[edit | edit source]
EPHA6, like other Eph receptors, is involved in mediating cell-cell communication. It plays a role in:
- Axon guidance: EPHA6 is involved in the development of the nervous system by guiding axons to their correct targets.
- Cell migration and positioning: It helps in the organization of cells within tissues during development.
- Synaptic plasticity: EPHA6 may influence synaptic formation and plasticity, impacting learning and memory.
Expression[edit | edit source]
EPHA6 is predominantly expressed in the brain, with high levels in regions such as the hippocampus and cortex. Its expression pattern suggests a role in higher cognitive functions.
Clinical Significance[edit | edit source]
Alterations in EPHA6 expression or function have been implicated in various neurological disorders. Research is ongoing to determine its exact role in conditions such as:
- Alzheimer's disease: Changes in EPHA6 expression have been observed in Alzheimer's patients, suggesting a potential role in disease progression.
- Schizophrenia: Genetic studies have linked EPHA6 to schizophrenia, although the mechanisms remain unclear.
Research[edit | edit source]
Current research on EPHA6 focuses on understanding its role in the nervous system and its potential as a therapeutic target. Studies are exploring how modulation of EPHA6 activity could influence neurodevelopmental and neurodegenerative diseases.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD