This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
该基因编码一个中心体相关蛋白。此蛋白质可能参与了组织间期和有丝分裂期间的中心体。在这种基因突变与视网膜肾ciliopathy相关联。 [由RefSeq的,2010年10月提供]
SDCCAG8基因(以及对应的蛋白质)的细胞分布位置:
SDCCAG8基因的本体(GO)信息:
名称 |
---|
Anchoring of the basal body to the plasma membrane |
Assembly of the primary cilium |
Cell Cycle |
Cell Cycle, Mitotic |
Centrosome maturation |
G2/M Transition |
Loss of Nlp from mitotic centrosomes |
Loss of proteins required for interphase microtubule organization from the centrosome |
Mitotic G2-G2/M phases |
Organelle biogenesis and maintenance |
Recruitment of mitotic centrosome proteins and complexes |
Regulation of PLK1 Activity at G2/M Transition |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Obesity | 0.123181358 | 3 | 1 | BeFree_GAD_GWASCAT |
Schizophrenia | 0.122638474 | 4 | 4 | BeFree_GAD_GWASCAT |
Bardet-Biedl Syndrome | 0.120814326 | 3 | 0 | BeFree_ORPHANET |
Cystic Kidney Diseases | 0.12 | 1 | 0 | CTD_human |
SENIOR-LOKEN SYNDROME 7 | 0.12 | 0 | 6 | CLINVAR |
Renal dysplasia and retinal aplasia (disorder) | 0.12 | 0 | 0 | ORPHANET |
Retinal Diseases | 0.12 | 1 | 0 | CTD_human |
Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
HIV Infections | 0.002367032 | 1 | 0 | GAD |
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