EGF-like, fibronectin type-III and laminin G-like domain-containing protein (EGFLAM)

EGF-like, fibronectin type-III and laminin G-like domain-containing protein (EGFLAM), commonly known as pikachurin, is a highly conserved, retina-specific, extracellular matrix-like protein essential for the formation and maintenance of the photoreceptor ribbon synapse. Pikachurin is encoded by the EGFLAM gene and comprises 1,017 amino acids, containing two fibronectin type III (FN3) domains, three laminin G domains, and two EGF-like domains[1][4][5]. It acts as a dystroglycan-binding protein that bridges pre-synaptic photoreceptor dystroglycan complexes with post-synaptic GPR179 orphan receptors on bipolar cells, thereby ensuring precise synaptic alignment and effective visual signaling[1][3]. Defects in pikachurin or its binding to dystroglycan have been associated with congenital muscular dystrophies presenting with ocular symptoms, as well as other retinal synaptic dysfunctions[1][3]. Although critical to synaptic structure in the retina and linked to inherited eye diseases, pikachurin/EGFLAM is not a current direct therapeutic drug target and has no known drug interactions[1][3][4][5].

Other names

PikachurinAGRINLAGRNLPIKAFLJ39155Agrin-like proteinagrin-like proteinEGF-like, fibronectin type-III and laminin G-like domain-containing protein