简介 | Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024] Diseases associated with PGM2L1 include Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities and Epilepsy. Among its related pathways are Glycolysis (REACTOME) and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include intramolecular phosphotransferase activity and glucose-1,6-bisphosphate synthase activity. An important paralog of this gene is PGM2. Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate, as acceptors (PubMed:17804405). In vitro, also exhibits very low phosphopentomutase and phosphoglucomutase activity which are most probably not physiologically relevant (PubMed:17804405). |