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RD3 encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants.
Gene Name: | retinal degeneration 3 |
Synonyms: | RD3, C1orf36, Protein RD3, Retinal degeneration protein 3, LCA12, Retinal degeneration 3 |
Target Sequences: | NP_898882.1 Q7Z3Z2 |
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