This gene belongs to the GPI family whose members encode multifunctional phosphoglucose isomerase proteins involved in energy pathways. The protein encoded by this gene is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate. The protein 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.
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Protein Aliases: AMF; Autocrine motility factor; glucose phosphate isomerase; Glucose-6-phosphate isomerase; GNPI; GPI; hexose monophosphate isomerase; hexosephosphate isomerase; Neuroleukin; NLK; oxoisomerase; PGI; PHI; Phosphoglucose isomerase; phosphohexomutase; Phosphohexose isomerase; phosphosaccharomutase; SA-36; SA36; Sperm antigen 36; sperm antigen-36
Gene Aliases: AMF; GNPI; GPI; NLK; PGI; PHI; SA-36; SA36
UniProt ID: (Human) P06744
Molecular Function: isomerase