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The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
[中文简述(自动翻译):]  由该基因编码的蛋白质产生的共同核心1 O-聚糖结构,半乳糖基-β-1-3GalNAc-R,由半乳糖从UDP-半乳糖转移到的GalNAc-α-1-R。核心1是在细胞表面和分泌糖蛋白很多扩展的粘蛋白型O型聚糖的前体。在小鼠中的研究表明,这种基因在血小板生成和肾稳态的关键作用。[通过的RefSeq,2010年9月提供]
C1GALT1基因(以及对应的蛋白质)的细胞分布位置:
C1GALT1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
IGA Glomerulonephritis | 0.010086957 | 11 | 0 | BeFree_GAD |
Behcet Syndrome | 0.002367032 | 1 | 1 | GAD |
Multiple Sclerosis | 0.002367032 | 1 | 1 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Henoch-Schoenlein Purpura | 0.000542884 | 2 | 0 | BeFree |
Tn Syndrome | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Nephritis | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
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