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This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
[中文简述(自动翻译):]  该基因编码补体系统的最后一个组成部分。它参与的膜攻击复合物(MAC)的形成。在Mac上的细菌膜装配形成一个孔,允许细菌膜组织的破坏。突变这个基因导致部分C9不足。 [由RefSeq的,2009年2月提供]
C9基因(以及对应的蛋白质)的细胞分布位置:
C9基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
C9 Deficiency | 0.240814326 | 4 | 4 | BeFree_CLINVAR_UNIPROT |
MACULAR DEGENERATION, AGE-RELATED, 15 | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
Age related macular degeneration | 0.122367032 | 2 | 0 | CTD_human_GAD |
Liver carcinoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Dermatomyositis | 0.12 | 1 | 0 | CTD_human |
Facial Dermatoses | 0.12 | 1 | 0 | CTD_human |
Immunologic Deficiency Syndromes | 0.12 | 2 | 0 | CTD_human |
Meningococcal meningitis | 0.12 | 1 | 0 | CTD_human |
Opioid-Related Disorders | 0.12 | 1 | 0 | CTD_human |
Erythema | 0.12 | 1 | 0 | CTD_human |
Endometriosis | 0.00272435 | 1 | 0 | LHGDN |
Infertility | 0.00272435 | 1 | 0 | LHGDN |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Hepatitis B, Chronic | 0.000271442 | 1 | 0 | BeFree |
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