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This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
[中文简述(自动翻译):]  这个基因编码的丝氨酸蛋白酶,其功能为补体激活的凝集素途径的组分。补体途径在先天和适应性免疫应答中起重要作用。所编码的蛋白质被合成为一个酶原并当它与凝集素途径,甘露糖结合凝集素和ficolins的病原体识别分子复合物被激活。这种蛋白质是不直接参与补体活化,但可通过裂解补体C2或通过激活另一补体丝氨酸蛋白酶,MASP-2发挥作用的补体激活的放大器。所编码的蛋白质也能够切割纤维蛋白原和因子XIII和可能可能参与凝血。这个基因,其缺少丝氨酸蛋白酶结构域作为补体途径的抑制剂的剪接变体。选择性剪接结果在多个抄本变形。[由RefSeq的,2010年4月提供]
MASP1基因(以及对应的蛋白质)的细胞分布位置:
MASP1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Oculopalatoskeletal syndrome | 0.24 | 1 | 3 | CLINVAR_CTD_human |
Amyotrophic Lateral Sclerosis | 0.12 | 1 | 1 | GWASCAT |
Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
Pigmentation Disorders | 0.12 | 1 | 0 | CTD_human |
Malpuech facial clefting syndrome | 0.12 | 1 | 0 | CTD_human |
Carnevale syndrome | 0.12 | 1 | 0 | CTD_human |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of lung | 0.002367032 | 1 | 0 | GAD |
Age related macular degeneration | 0.002367032 | 1 | 0 | GAD |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Arthritis | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Developmental Disabilities | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Hepatitis C | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Paratuberculosis | 0.000271442 | 1 | 0 | BeFree |
Chagas Disease | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Deformity of limb | 0.000271442 | 1 | 0 | BeFree |
Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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