RD3 Antibody (B-10): sc-376800

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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. RD3 (retinal degeneration 3), also known as LCA12, is a 195 amino acid protein expressed in retina. RD3 is suggested to be part of the subnuclear protein complexes involved in diverse processes, such as transcription and splicing. Defects in the gene encoding RD3 are the cause of Leber congenital amaurosis type 12. Infants affected with Leber congenital amaurosis type 12 have little or no retinal photoreceptor function.