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This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]
[中文简述(自动翻译):]  此基因编码一种血浆糖蛋白正调节先天免疫系统的补体旁路。该蛋白质结合许多微生物的表面和凋亡细胞并稳定C 3和C 5转化酶复合在反馈回路中,最终导致形成靶细胞的膜攻击复合物和裂解。突变在该基因导致两种形式备解不足,这导致在高敏感性脑膜炎球菌感染。多个可变剪接变体,编码相同的蛋白质,也已确定。[通过的RefSeq,2009年2月提供]
CFP基因(以及对应的蛋白质)的细胞分布位置:
CFP基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| PROPERDIN DEFICIENCY, X-LINKED | 0.36 | 4 | 3 | CLINVAR_CTD_human_UNIPROT |
| Properdin deficiency disease | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
| Meningococcal meningitis | 0.12 | 2 | 0 | CTD_human |
| Properdin Deficiency, Type II | 0.12 | 0 | 1 | CLINVAR |
| Properdin Deficiency, Type III | 0.12 | 0 | 1 | CLINVAR |
| Tuberculosis | 0.002985861 | 11 | 0 | BeFree |
| Vascular Diseases | 0.00272435 | 1 | 0 | LHGDN |
| Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
| Schizophrenia | 0.000814326 | 3 | 0 | BeFree |
| Leprosy | 0.000542884 | 2 | 0 | BeFree |
| Meningococcal Infections | 0.000542884 | 2 | 0 | BeFree |
| Tuberculosis, Pulmonary | 0.000542884 | 2 | 0 | BeFree |
| Age related macular degeneration | 0.000542884 | 2 | 0 | BeFree |
| Alcoholic Intoxication, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Febrile Convulsions | 0.000271442 | 1 | 0 | BeFree |
| Epilepsy, Temporal Lobe | 0.000271442 | 1 | 0 | BeFree |
| HIV Infections | 0.000271442 | 1 | 0 | BeFree |
| Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
| Seizure, Febrile, Simple | 0.000271442 | 1 | 0 | BeFree |
| Memory impairment | 0.000271442 | 1 | 0 | BeFree |
| Myoclonic Epilepsy, Juvenile | 0.000271442 | 1 | 0 | BeFree |
| Attention deficit hyperactivity disorder | 0.000271442 | 1 | 0 | BeFree |
| Major Depressive Disorder | 0.000271442 | 1 | 0 | BeFree |
| Papillary Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Hippocampal sclerosis | 0.000271442 | 1 | 0 | BeFree |
| Non-Malignant Ascites Adverse Event | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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