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词条

PGM2L1

ID: 49435 添加时间: 2024/7/4 12:22:25 修改时间: 2025/1/22 19:48:30 词条编辑: 刘小见
同义词磷酸葡萄糖变位酶2样1 ; phosphoglucomutase 2 like 1;FLJ32029 ; BM32A ; glucose-1,6-bisphosphate synthase ;
基因信息染色体位置: 11q13.4   基因类型: 蛋白编码基因 , 酶
层次树 人类基因组 2.转移酶 2.7-转移酶.含磷基团 2.7.1-激酶.羟基受体
外库HGNC   GeneCards   NCBI   Kegg   KO   UniProt   Signor   Ensembl   AllianceGenome   UCSC   GenCC   VEGA   OMIM   PubMed   RefSeq   ENA   CCDS  
父-分类
兼容
酶功能
  • EC 2.7.1.106 葡萄糖-1,6-二磷酸合酶     glucose-1,6-bisphosphate synthase
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).