Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1)

Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 is a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness.Essential for RPGR function and is also required for normal disk morphogenesis. Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments. Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6);Defects in RPGRIP1 are the cause of cone-rod dystrophy type 9 (CORD9).