2024年12月24日 · ALG5 (ALG5 Dolichyl-Phosphate Beta-Glucosyltransferase) is a Protein Coding gene. Diseases associated with ALG5 include Polycystic Kidney Disease 7 and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Metabolism of proteins.

2022年8月4日 · We demonstrate that ALG5 haploinsufficiency is sufficient to alter the synthesis of the N-glycan chain in renal epithelial cells. We also show that ALG5 is required for PC1 maturation and membrane and ciliary localization and that heterozygous loss of …

2024年7月1日 · ALG5 dysfunction adversely affects maturation and trafficking of N-glycosylated and GPI anchored protein uromodulin, leading to structural and functional changes in the kidney. Our findings confirm ALG5 as a cause of late-onset ADPKD and provide additional insight into the molecular mechanisms of ADPKD- ALG5.

The ALG5 gene encodes dolichyl-phosphate beta-glycosyltransferase (EC 2.4.1.117), a transmembrane-bound enzyme of the endoplasmic reticulum (ER) dolichol cycle that is involved in N-glycosylation as a posttranslational modification of many glycoproteins (summary by Lemoine et …

alg5 多萜醇磷酸酯β-葡糖基转移酶： 该基因编码糖基转移酶 2 家族的一个成员。 编码的蛋白质参与蛋白质 N-连接糖基化中寡聚甘露糖核心的糖基化。 必须将葡萄糖残基添加到寡聚甘露糖核心以确保底物识别，并因此确保寡聚甘露糖核心有效转移到新生糖蛋白。

Endoplasmic reticulum membrane-bound UDP-glucose:dolichyl-phosphate glucosyltransferase involved in protein N-linked glycosylation. Present with 5800 molecules/cell in log phase SD medium. This reaction proceeds in the forward direction. Protein modification; protein glycosylation. Gene Ontology (GO) annotations organized by slimming set. Search…

2025年1月4日 · Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis. Lemoine H, et al. Am J Hum Genet, 2022 Aug 4. PMID 35896117, Free PMC Article. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.

2024年12月10日 · Clinical resource with information about ALG5, Polycystic kidney disease 7, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

ALG5的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为该基因编码糖基转移酶2家族的一个成员。 所编码的蛋白质参与蛋白质的N-连接糖基化的寡核的糖基。 加入葡萄糖残基的寡核是必要的以确保底物识别，并且因此，所述寡核的有效的传递到新生糖蛋白。 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]

2024年4月15日 · ALG5 dysfunction adversely affects maturation and trafficking of N-glycosylated and GPI anchored protein uromodulin, leading to structural and functional changes in the kidney. Our findings confirm ALG5 as a cause of late-onset ADPKD and provide additional insight into the molecular mechanisms of AD …