Lebercilin
Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. This autosomal recessive disease displays locus heterogeneity. We used autozygosity mapping to localize the LCA5 gene to chromosome 6q14 and identify mutations in the gene encoding a ciliary and microtubule-associated protein, lebercilin. The image (click to view full-size) illustrates the subcellular localization of the lebercilin protein.
Den Hollander A, Koenekoop R, Mohamed M, Arts H, Boldt K, Towns K, Sedmark T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams G, Springell K, Woods CG, Jafri H, Rashid Y, Strom T, Zwaag B, Gosens I, Kersten F, Veltman J, Van Wijk E, Zonneveld M, Beersum S, Maumenee I, Wolfrum U, Cheetham M, Ueffing M, Cremers F, Inglehearn CF, Roepman R (2007). Mutations in lebercilin, a novel ciliary protein, cause Leber congenital amaurosis. Nature Genet 39:889-95.
Leber congenital amaurosis is the commonest form of congenital blindness. One gene, LCA5 on Chr. 6q14, encodes the ciliary protein lebercilin. The image shows lebercilin co-localized with tubulin in cultured cells.