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This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码补体因子B,补体激活旁路途径的组分。因子B循环在血液中作为单链多肽。在替代途径的活化,它是由补体因子D裂解得到的非催化链Ba和催化亚基了Bb。活性亚基了Bb是丝氨酸蛋白酶,其与C3b的关联,以形成所述旁路途径C3转化。 BB参与预活化B淋巴细胞的增殖,而巴抑制其增殖。该基因定位于主要组织相容性复合体(MHC)类第三区域上6号染色体此群包括参与免疫反应的调节的几个基因。在这种基因多态性与年龄相关性黄斑变性的风险降低相关。该基因的聚腺苷酸化位点是从基因补体成分2的5‘端421碱基[通过的RefSeq,2008年7月提供]
CFB基因(以及对应的蛋白质)的细胞分布位置:
CFB基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 | 0.36 | 2 | 2 | CLINVAR_ORPHANET_UNIPROT |
Age related macular degeneration | 0.319044595 | 56 | 21 | BeFree_CTD_human_GAD_GWASCAT_LHGDN |
Lupus Erythematosus, Systemic | 0.134202192 | 5 | 1 | CTD_human_GAD |
Atypical Hemolytic Uremic Syndrome | 0.121085767 | 4 | 0 | BeFree_CTD_human |
Ulcerative Colitis | 0.120271442 | 2 | 1 | BeFree_GWASCAT |
Hepatitis B, Chronic | 0.120271442 | 1 | 1 | BeFree_GWASCAT |
Myasthenia Gravis | 0.12 | 1 | 0 | CTD_human |
Macular Degeneration, Age-Related, 1 | 0.12 | 0 | 0 | CTD_human |
MACULAR DEGENERATION, AGE-RELATED, 14 | 0.12 | 0 | 1 | CLINVAR |
COMPLEMENT FACTOR B DEFICIENCY | 0.12 | 0 | 2 | CLINVAR |
Diabetes Mellitus, Insulin-Dependent | 0.011639663 | 10 | 3 | BeFree_GAD |
Choroid Diseases | 0.007101096 | 3 | 0 | GAD |
Peripheral Vascular Diseases | 0.007101096 | 3 | 0 | GAD |
Alzheimer's Disease | 0.005005506 | 3 | 0 | BeFree_GAD |
Hemolytic-Uremic Syndrome | 0.005005506 | 3 | 0 | BeFree_GAD |
Multiple Sclerosis | 0.004734064 | 2 | 1 | GAD |
Choroidal Neovascularization | 0.004734064 | 2 | 0 | GAD |
Meningococcal Infections | 0.00272435 | 1 | 0 | LHGDN |
Psoriasis | 0.00272435 | 1 | 0 | LHGDN |
Premature Birth | 0.00272435 | 1 | 0 | LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002638474 | 2 | 0 | BeFree_GAD |
HIV Infections | 0.002638474 | 2 | 0 | BeFree_GAD |
Retinal Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Geographic Atrophy | 0.002638474 | 2 | 0 | BeFree_GAD |
Spontaneous abortion | 0.002367032 | 1 | 0 | GAD |
Ataxia Telangiectasia | 0.002367032 | 1 | 0 | GAD |
Choroiditis | 0.002367032 | 1 | 0 | GAD |
Coronary heart disease | 0.002367032 | 1 | 0 | GAD |
Mental Depression | 0.002367032 | 1 | 0 | GAD |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Parkinson Disease | 0.002367032 | 1 | 0 | GAD |
Retinal Drusen | 0.002367032 | 1 | 0 | GAD |
Low Vision | 0.002367032 | 1 | 0 | GAD |
Rheumatoid Arthritis | 0.001085767 | 4 | 0 | BeFree |
Macular degeneration | 0.000814326 | 3 | 3 | BeFree |
Exudative age-related macular degeneration | 0.000814326 | 3 | 0 | BeFree |
Diabetes | 0.000542884 | 2 | 4 | BeFree |
Diabetes Mellitus | 0.000542884 | 2 | 4 | BeFree |
Schizophrenia | 0.000542884 | 2 | 0 | BeFree |
Drusen | 0.000542884 | 2 | 1 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Crohn Disease | 0.000271442 | 1 | 0 | BeFree |
Necrotizing Ulcerative Gingivitis | 0.000271442 | 1 | 0 | BeFree |
Glomerulonephritis | 0.000271442 | 1 | 0 | BeFree |
Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure, Acute | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Pyruvate Carboxylase Deficiency Disease | 0.000271442 | 1 | 0 | BeFree |
Septicemia | 0.000271442 | 1 | 0 | BeFree |
Anterior uveitis | 0.000271442 | 1 | 0 | BeFree |
Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
Sepsis | 0.000271442 | 1 | 0 | BeFree |
Coinfection | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Bacterial sepsis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gastrointestinal tract | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Acute anterior uveitis | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Severe Sepsis | 0.000271442 | 1 | 0 | BeFree |
Unspecified visual loss | 0.000271442 | 1 | 0 | BeFree |
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