Entrez 2043 | Ensembl ENSG00000116106 | |
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Aliases EPHA4, Epha4, 2900005C20Rik, AI385584, Cek8, Hek8, Sek, Sek1, Tyro1, rb, EPH receptor A4, HEK8, SEK, TYRO1 External IDs MGI: 98277 HomoloGene: 20933 GeneCards: EPHA4 | ||
EPH receptor A4 (ephrin type-A receptor 4) is a protein that in humans is encoded by the EPHA4 gene.
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands.
In 2012, a publication in Nature medicine revealed a connection between EPHA4 and the neurodegenerative disease Amyotrophic lateral sclerosis (ALS), where a defective gene allows ALS patients to live considerably longer than patients with an intact gene. This opens up for development of treatment for this, currently untreatable, disease.