Gene Symbol | RD3 |
Entrez Gene ID | 343035 |
Full Name | retinal degeneration 3 |
Synonyms | C1orf36,LCA12 |
General protein information |
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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) |