更多...
收起
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]
[中文简述(自动翻译):]  这个基因编码是与在细胞核早幼粒细胞白血病的基因产物(PML)体相关的视网膜蛋白。突变该基因引起莱伯先天性黑朦型12,其导致视网膜变性的疾病。选择性剪接结果在多个抄本变形。 [由RefSeq的,2009年09月提供]
RD3基因(以及对应的蛋白质)的细胞分布位置:
RD3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| LEBER CONGENITAL AMAUROSIS 12 (disorder) | 0.320271442 | 1 | 5 | BeFree_CLINVAR_CTD_human_MGD |
| Leber Congenital Amaurosis | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| Amyotrophic Lateral Sclerosis | 0.002367032 | 1 | 1 | GAD |
| Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
| Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
| Photoreceptor degeneration | 0.000271442 | 1 | 0 | BeFree |
| Amaurosis congenita of Leber, type 1 | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。