RPGRIP1 gene encodes for a photoreceptor protein, comprising 1286 amino acids with a molecular mass of 147 kDa. It interacts with Retinitis Pigmentosa GTPase Regulator protein, a key component of cone and rod photoreceptor cells. RPGRIP1 is also required for normal disk morphogenesis. This protein contains a coiled-coil domain that is normally found in proteins involved in vesicular trafficking and a C-terminal RPGR interacting domain (RID). RPGRIP1 is mainly expressed in amacrine cells and photoreceptors within the eye, while it localizes predominantly to outer segments (OS) of rods and cones in humans within photoreceptors. Defects in this protein are the cause of Leber congenital amaurosis type 6 (LCA6), an autosomal recessive disorder responsible for congenital blindness, or greatly impaired vision, since birth.