RPGRIP1

Description

The RPGRIP1 (RPGR interacting protein 1) is a protein-coding gene located on chromosome 14.

RPGRIP1, or X-linked retinitis pigmentosa GTPase regulator-interacting protein 1, is a protein located in the ciliary transition zone of human cells. It is encoded by the RPGRIP1 gene. This multi-domain protein contains a coiled-coil domain at its N-terminus, two C2 domains, and a C-terminal RPGR-interacting domain (RID). Mutations in the RPGRIP1 gene can lead to the development of Leber congenital amaurosis (LCA) and glaucoma. RPGRIP1 interacts with Retinitis pigmentosa GTPase regulator.

RPGRIP1 acts as a scaffolding protein, ensuring proper positioning of RPGR within the connecting cilium of photoreceptor cells. It is essential for normal disk formation and arrangement in the outer segment of photoreceptor cells, ultimately contributing to the survival of these cells.

RPGRIP1 is also known as CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d.

Associated Diseases

• Leber congenital amaurosis
• Leber congenital amaurosis 6
• Cone-rod dystrophy 13
• Cone rod dystrophy
• Meckel syndrome