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This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
[中文简述(自动翻译):]  该基因编码在N连接的寡糖的处理途径中的第一种酶。酶切割从葡萄糖(3)-Man(9)-GlcNAc(2)的寡糖前体的前端的α-1,2-连接的葡萄糖残基。该蛋白质位于内质网的内腔中。在这个基因的缺陷是糖基化的IIb型先天性障碍(CDGIIb)的一个原因。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2009年03月提供]
MOGS基因(以及对应的蛋白质)的细胞分布位置:
MOGS基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Congenital Disorder Of Glycosylation, Type IIB | 0.480542884 | 2 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Leukemia, Myelocytic, Acute | 0.001900093 | 7 | 0 | BeFree |
| Holoprosencephaly | 0.001085767 | 4 | 0 | BeFree |
| Congenital chromosomal disease | 0.000814326 | 3 | 0 | BeFree |
| Refractory anaemia with excess blasts | 0.000542884 | 2 | 0 | BeFree |
| leukemia | 0.000542884 | 2 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.000542884 | 2 | 0 | BeFree |
| Monosomy | 0.000542884 | 2 | 0 | BeFree |
| Trisomy | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Primary Myelofibrosis | 0.000271442 | 1 | 0 | BeFree |
| Ameloblastoma | 0.000271442 | 1 | 0 | BeFree |
| Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Eosinophilia | 0.000271442 | 1 | 0 | BeFree |
| Malaria | 0.000271442 | 1 | 0 | BeFree |
| Mycoses | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Situs Inversus | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Sarcoma, Clear Cell | 0.000271442 | 1 | 0 | BeFree |
| Situs ambiguus | 0.000271442 | 1 | 0 | BeFree |
| Cyclocephaly | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Therapy-related myelodysplastic syndrome | 0.000271442 | 1 | 0 | BeFree |
| Eosinophilic disorder | 0.000271442 | 1 | 0 | BeFree |
| Adamantinoma | 0.000271442 | 1 | 0 | BeFree |
| Disorder characterized by eosinophilia | 0.000271442 | 1 | 0 | BeFree |
| Mixed phenotype acute leukemia | 0.000271442 | 1 | 0 | BeFree |
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