| Gene Symbol | RD3 |
| Entrez Gene ID | 343035 |
| Full Name | retinal degeneration 3 |
| Synonyms | C1orf36,LCA12 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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, Sep 2009]. |
| Disorder MIM: | |
| Disorder Html: | Leber congenital amaurosis 12, 610612 (3) |








































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