Eyes shut homolog (EYS)

Eyes shut homolog (EYS) is a large secreted protein that contains multiple epidermal growth factor (EGF)-like domains and laminin G-like domains[1][2][3]. EYS is predominantly expressed in retinal photoreceptor cells and is essential for the organization and maintenance of photoreceptor cell structure, in particular the interphotoreceptor matrix and the connecting cilium, which is crucial for protein trafficking in the retina[3][4]. It is closely related to invertebrate proteins involved in compartmentalization of sensory epithelia. EYS interacts with the carbohydrate matriglycan through its LG domains, supporting photoreceptor survival[2]. Mutations in EYS are among the most frequent genetic causes of autosomal recessive retinitis pigmentosa, and can also cause cone-rod dystrophy[1][2][3][4]. The EYS gene is one of the largest human genes, with 44–46 exons and encoding a protein of approximately 3000 amino acids[1][3]. Loss of EYS function leads to disorganized retinal architecture and progressive visual impairment, but there are currently no approved drugs directly targeting EYS[1][3][4].

Other names

Eyes shutProtein eyes shut homologEYSC6orf178C6orf179C6orf180EGFL10EGFL11SPAMProtein spacemaker homologRP25bA166P24.2bA307F22.3bA74E24.1dJ1018A4.2dJ22I17.2dJ303F19.1Epidermal growth factor-like protein 10Epidermal growth factor-like protein 11