Lebercilin (LCA5)

The deduced 697-amino acid protein contains 4 coiled-coil domains. Little to no expression was detected in adult brain, lung, and skeletal muscle. In situ hybridization of mouse embryos at day 12.5 postcoitum detected almost ubiquitous, low level staining. At later stages, staining of the eye, inner ear, kidney, regions of the central and peripheral neural system, the gut, and the ciliated epithelium of the nasopharynx, trachea, and lungs was more pronounced. In adult eye, expression was limited to the photoreceptor cell layer. In ciliated cell lines, lebercilin localized to the ciliary axoneme, and in mouse and rat retina, it localized between the outer and inner segments of the photoreceptor layer. Retinal epithelial cells overexpressing fluorescence-tagged lebercilin showed staining of the basal body, transition zone of the cilium, and microtubules.