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This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的人补体C1q子组件的主要成分。与C1R和C1s的C1q的联营以得到血清补体系统的第一组分。 C1q的缺失一直与红斑狼疮和肾小球肾炎相关。 C1q的由18多肽链:六个链,6个B链,以及6架C-链。每条链包含位于N末端和C末端的球状区域附近的胶原样区。在A,B,和C-链1号染色体上排列顺序A-C-B该基因编码的人补体C1q子的A链多肽。 [由RefSeq的,2008年7月提供]
C1QA基因(以及对应的蛋白质)的细胞分布位置:
C1QA基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Lupus Erythematosus, Systemic | 0.211368221 | 9 | 0 | BeFree_CTD_human_GAD_MGD |
| Exanthema | 0.12 | 1 | 0 | CTD_human |
| IGA Glomerulonephritis | 0.12 | 2 | 0 | CTD_human |
| Glomerulonephritis, Membranoproliferative | 0.12 | 1 | 0 | CTD_human |
| Immune Complex Diseases | 0.12 | 1 | 0 | CTD_human |
| C1q DEFICIENCY | 0.12 | 0 | 1 | CLINVAR |
| Iron deficiency anemia | 0.08 | 1 | 0 | RGD |
| Malignant neoplasm of breast | 0.00554839 | 3 | 0 | BeFree_GAD |
| Lymphoma, Follicular | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
| Lupus Erythematosus | 0.003724241 | 5 | 0 | BeFree_GAD |
| Neoplasm Metastasis | 0.003267234 | 2 | 1 | BeFree_LHGDN |
| Diffuse Large B-Cell Lymphoma | 0.002909916 | 3 | 1 | BeFree_GAD |
| Lupus Erythematosus, Cutaneous | 0.00272435 | 1 | 0 | LHGDN |
| Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Lupus Nephritis | 0.002367032 | 1 | 0 | GAD |
| B-Cell Lymphomas | 0.002367032 | 1 | 0 | GAD |
| Amyloid Neuropathies, Familial | 0.002367032 | 1 | 0 | GAD |
| Lupus Vulgaris | 0.001357209 | 5 | 0 | BeFree |
| Lupus Erythematosus, Discoid | 0.001357209 | 5 | 0 | BeFree |
| Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Glaucoma | 0.000271442 | 1 | 0 | BeFree |
| Nephritis | 0.000271442 | 1 | 0 | BeFree |
| PHOTOPAROXYSMAL RESPONSE 1 | 0.000271442 | 1 | 0 | BeFree |
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