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Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness or severe visual impairment in infants. Mutations in several genes with diverse functions mapping to two loci have been implicated in LCA causation. These proteins are involved in processes such as photoreceptor development and maintenance, phototransduction, vitamin A metabolism and protein trafficking. LCA5, also known as Lebercilin, is a ciliary protein that is widely expressed during development and localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. The Leber congenital amaurosis 5-like protein (LCA5L) is a 670 amino acid protein that belongs to the LCA5 family.
Synonyms: C6orf152, LCA5, Leber congenital amaurosis 5, Leber congenital amaurosis 5 protein, ORF64, RGD1308555.