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The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
[中文简述(自动翻译):]  由该基因编码的蛋白质是调节突触小泡胞吐一个RAS基因超家族的成员。这种基因也发挥神经递质和胰岛素释放中的电压门控钙通道的调控作用。突变建议一个角色认知和已被确定为7,编码不同同种型的多个转录物变体已被用于这个基因所描述的锥 - 视杆营养不良型的原因。 [由RefSeq的,2012年3月提供]
RIMS1基因(以及对应的蛋白质)的细胞分布位置:
RIMS1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Cone-Rod Dystrophy 7 | 0.360271442 | 2 | 1 | BeFree_CLINVAR_CTD_human_UNIPROT |
| Autistic Disorder | 0.12 | 1 | 0 | CTD_human |
| Retinitis Pigmentosa | 0.004353001 | 6 | 0 | BeFree_LHGDN |
| Retinal Diseases | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Weight Gain | 0.002367032 | 1 | 0 | GAD |
| Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
| Retinal Dystrophies | 0.000542884 | 2 | 0 | BeFree |
| Macular degeneration | 0.000271442 | 1 | 0 | BeFree |
| Age related macular degeneration | 0.000271442 | 1 | 0 | BeFree |
| Atrophoderma maculatum | 0.000271442 | 1 | 0 | BeFree |
| CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL | 0.000271442 | 1 | 0 | BeFree |
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