Entrez gene ID | | 343035 |
Official gene symbol | | RD3 |
Full name | | retinal degeneration 3 |
Aliases | | ,C1orf36,LCA12, |
Gene summary | | This gene 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. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q32.3 |
Gene position | | 211666259 - 211649864 Map Viewer |
Gene orientation | | minus |
Gene size | | 16396 bp |
Gene sequence |
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OMIM ID | | 180040 |
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