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This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
[中文简述(自动翻译):]  此基因编码参与逆行运输中的纤毛,并具有在intraflagellar传输的作用,为睫状/鞭毛组装所需的处理的大胞质动力蛋白蛋白质。在这个基因的突变引起的相关改变纤毛功能的条件异构频谱和经常涉及多趾,不正常的骨骼发育和肾脏多囊。在多个转录剪接变异体导致编码不同的蛋白质。 [由RefSeq的,2010年1月提供]
DYNC2H1基因(以及对应的蛋白质)的细胞分布位置:
DYNC2H1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Short rib-polydactyly syndrome, Verma-Naumoff type | 0.240271442 | 1 | 0 | BeFree_CTD_human_ORPHANET |
Saldino-Noonan Syndrome | 0.200271442 | 4 | 0 | BeFree_MGD_UNIPROT |
Jeune thoracic dystrophy | 0.120814326 | 3 | 0 | BeFree_ORPHANET |
Short Rib-Polydactyly Syndrome | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Tuberculosis | 0.12 | 1 | 1 | GWASCAT |
VATER Association | 0.08 | 0 | 0 | MGD |
Pulmonary Atresia With Ventricular Septal Defect | 0.08 | 0 | 0 | MGD |
Small cell carcinoma of lung | 0.002638474 | 1 | 2 | BeFree_GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of lung | 0.002367032 | 1 | 0 | GAD |
Coronary Artery Disease | 0.002367032 | 1 | 1 | GAD |
Polydactyly | 0.000814326 | 3 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Situs ambiguus | 0.000271442 | 1 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
Mainzer-Saldino Disease | 0.000271442 | 1 | 0 | BeFree |
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