LCA5 gene encodes lebercilin, a protein whose function is yet to be fully characterized. It is believed to play a role in minus end-directed microtubule transport as well as centrosomal and ciliary functions. Mutations in the LCA5 gene have been associated with Leber Congenital Amaurosis 5 (LCA5), an early onset ocular disorder characterized by retinal dystrophy, vision loss and nystagmus.