G6PI: belongs to the GPI family whose members encode multifunctional phosphoglucose isomerase proteins involved in energy pathways. A dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate. Functions in different capacities inside and outside the cell. In the cytoplasm, the gene product is involved in glycolysis and gluconeogenesis, while outside the cell it functions as a neurotrophic factor for spinal and sensory neurons. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment.
Protein type: Carbohydrate Metabolism - pentose phosphate pathway; Isomerase; Apoptosis; Carbohydrate Metabolism - starch and sucrose; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Cytokine; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 5.3.1.9
Chromosomal Location of Human Ortholog: 19q13.1
Cellular Component: cytoplasm; cytosol; extracellular space; membrane; myelin sheath; neuron projection; nucleoplasm; plasma membrane
Molecular Function: cytokine activity; glucose-6-phosphate isomerase activity; growth factor activity; intramolecular transferase activity; monosaccharide binding; ubiquitin protein ligase binding
Biological Process: aldehyde catabolic process; angiogenesis; carbohydrate metabolic process; erythrocyte homeostasis; gluconeogenesis; glucose 6-phosphate metabolic process; glucose homeostasis; hemostasis; humoral immune response; in utero embryonic development; learning and/or memory; mesoderm formation; methylglyoxal biosynthetic process; negative regulation of caspase activity; negative regulation of neuron apoptosis
Disease: Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
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