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This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
[中文简述(自动翻译):]  这个基因编码所必需的甘露糖供体在脂质连接寡糖和glycosylphosphatidylinositols的合成甘露-P-多萜醇的利用内质网的膜蛋白。突变在该基因的结果中的糖基化类型。如果先天性紊乱。选择性剪接结果在多个抄本变形。 [由RefSeq的,2008年12月提供]
MPDU1基因(以及对应的蛋白质)的细胞分布位置:
MPDU1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | 0.480542884 | 3 | 4 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
IGA Glomerulonephritis | 0.122367032 | 1 | 1 | GAD_GWASCAT |
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 |
Congenital Disorders of Glycosylation | 0.000271442 | 1 | 0 | BeFree |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | 0.000271442 | 1 | 0 | BeFree |
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