Nephrocystin 8 (NPHP8)

RPGRIP1L protein comprises 1,315 residues and shares 31% identity with RPGRIP1, a protein present at the photoreceptor connecting cilium and mutated in Leber congenital amaurosis type VI. RPGRIP1L contains an N-terminal region with 5 coiled-coil domains, a C-terminal region homologous to the RPGR-interacting domain of RPGRIP1, and a central region with 2 protein kinase C conserved region 2 (C2) motifs. The deduced protein contains 1,055 amino acids. RT-PCR ELISA detected moderate expression in adult brain, weak expression in kidney, ovary, and spinal cord, and no expression in any other adult or fetal tissue examined. Within specific brain regions, moderate expression was detected in caudate nucleus and amygdala, and weak expression was detected in corpus callosum, subthalamic nucleus, and cerebellum.