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]
人 RD3 (NM_183059) cDNA克隆
| Accession: | NM_183059 |
|---|---|
| 基因名称: | RD3 |
| 基因别名: | LCA12; C1orf36 |
| 基因描述: | Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 588 (查看编码区序列) |
| 翻译后氨基酸长度: | 195 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein. |
| 人 RD3 (NM_183059) cDNA克隆 | transcript variant 1 |
| 人 RD3 (NM_001164688) cDNA克隆 | transcript variant 2 |
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