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This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
[中文简述(自动翻译):]  该基因编码补体级联的组分。所编码的蛋白质是能够结合到细胞膜并导致细胞裂解的膜攻击复合物的一部分。在这种基因突变与补体成分6缺乏症相关联。编码相同蛋白质转录物变体已有描述。[通过的RefSeq,2012十一月提供]
C6基因(以及对应的蛋白质)的细胞分布位置:
C6基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Complement Component 6 Deficiency | 0.240271442 | 1 | 2 | BeFree_CLINVAR_CTD_human |
Calcinosis | 0.12 | 1 | 0 | CTD_human |
Heart valve disease | 0.12 | 1 | 0 | CTD_human |
C6 Deficiency, Subtotal | 0.12 | 0 | 0 | CLINVAR |
Experimental Autoimmune Encephalomyelitis | 0.08 | 1 | 0 | RGD |
Glomerulonephritis | 0.08 | 1 | 0 | RGD |
Kidney Failure, Chronic | 0.08 | 1 | 0 | RGD |
Proteinuria | 0.08 | 1 | 0 | RGD |
Sepsis | 0.08 | 1 | 0 | RGD |
Myasthenia Gravis, Autoimmune, Experimental | 0.08 | 1 | 0 | RGD |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Malaria, Falciparum | 0.002367032 | 1 | 0 | GAD |
Age related macular degeneration | 0.002367032 | 1 | 0 | GAD |
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