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This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
[中文简述(自动翻译):]  该基因编码的ALG3家族??的一个成员。编码蛋白催化在阿尔法1,3联动Man5GlcNAc2-PP劳工部加入第一DOL-P-人源性甘露糖。该基因缺陷已与特点是不正常的N-糖基化的糖基化类型ID(CDG-ID)的先天性障碍有关。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2008年11月提供]
ALG3基因(以及对应的蛋白质)的细胞分布位置:
ALG3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | 0.481085767 | 6 | 5 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.00272435 | 1 | 0 | LHGDN |
| Congenital Disorders of Glycosylation | 0.000271442 | 1 | 0 | BeFree |
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