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This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
[中文简述(自动翻译):]  这个基因编码的丝氨酸蛋白酶,它是人补子C1的主要成分。与另外两个补体成分C1R和C1q的C1s的联营以得到血清补体系统的第一组分。在这个基因的缺陷是有选择性的C1s不足的原因。 [由RefSeq的,2009年03月提供]
C1S基因(以及对应的蛋白质)的细胞分布位置:
C1S基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Autoimmune Diseases | 0.12 | 1 | 0 | CTD_human |
Hepatitis, Autoimmune | 0.12 | 1 | 0 | CTD_human |
Complement 1s deficiency | 0.12 | 0 | 1 | CLINVAR |
Hashimoto Disease | 0.12 | 1 | 0 | CTD_human |
Hereditary Angioedema Types I and II | 0.12 | 1 | 0 | CTD_human |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Angioedemas, Hereditary | 0.000542884 | 2 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
Complement Component C1s Deficiency | 0.000271442 | 1 | 0 | BeFree |
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