PGM1 is an evolutionarily conserved enzyme that regulates one of the most important metabolic carbohydrate trafficking points in prokaryotic and eukaryotic organisms, catalyzing the bi-directional interconversion of glucose 1-phosphate (G-1-P) and glucose 6-phosphate (G-6-P).

2024年12月25日 · PGM1 (Phosphoglucomutase 1) is a Protein Coding gene. Diseases associated with PGM1 include Congenital Disorder Of Glycosylation, Type It and Hyperinsulinemic Hypoglycemia, Familial, 7. Among its related pathways are Glycogen metabolism and Innate Immune System.

该基因编码的蛋白质是磷酸葡萄糖变位酶 (PGM) 的同工酶，属于磷酸己糖变位酶家族。 有几种 PGM 同工酶，它们由不同的基因编码并催化磷酸盐在葡萄糖的 1 位和 6 位之间转移。 在大多数细胞类型中，这种 PGM 同工酶占主导地位，约占总 PGM 活性的 90%。 在红细胞中，PGM2 是主要的同工酶。 该基因具有高度多态性。 该基因的突变导致 14 型糖原贮积病。 已在该基因中鉴定出编码不同亚型的交替剪接转录变体。 [RefSeq 提供，2010 年 3 月]

PGM1 deficiency is caused by biallelic pathogenic variants in PGM1, which encodes PGM1, the predominant isoform of the PGM family. In most cell types, it contributes approximately 90% of total PGM activity and is expressed ubiquitously in different tissues. In contrast, PGM1 is absent in red blood cells, where PGM2 is the predominant isoform. 3

2020年3月18日 · 该工作首次发现了PGM1可以将葡萄糖的去向从糖酵解通路转换为糖原合成通路，从而抑制HCC生长的新功能；揭示了FOXJ2可以通过阻止CNBP结合到PGM1启动子，从而增强了PGM1表达的新机制；提示了PGM1和FOXJ2表达的综合分析可以为肝癌的恶性程度和预后提供 …

2024年6月17日 · Knock-down of PGM1 inhibits cell viability, glycolysis, and oxidative phosphorylation in glioma under low glucose condition via the Myc signaling pathway. Liu S, Deng Y, Yu Y, Xia XLiu S, et al. Biochem Biophys Res Commun, 2023 May 14. PMID 36947965

Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem diseas …

PGM1, the enzyme responsible for the reversible inter-conversion of glucose-1-P and glucose-6-P, is also involved in glycosylation, leading to a wide range of clinical manifestations, such as congenital malformations, hypoglycemia, hormonal dysregulation, myopathy, hepatopathy, and cardiomyopathy.

2018年10月18日 · Phosphoglucomutase 1 (PGM1), the first enzyme in glycogenesis that catalyzes the reversible conversion between glucose 1-phosphate (G-1-P) and glucose 6-phosphate (G-6-P), participates in both the breakdown and synthe …

2020年9月1日 · PGM1 deficiency is a recently described multi-organ CDG characterized by highly heterogeneous clinical presentations, whose pathogenesis is related with the involvement of PGM1 enzyme in glycogen metabolism, glucose homeostasis and protein glycosylation.