GPI Antibody – Rabbit Polyclonal

This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phophsate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

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: Isomerase; Carbohydrate Metabolism - starch and sucrose; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 5.3.1.9; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Cytokine; Carbohydrate Metabolism - pentose phosphate pathway; Apoptosis

Chromosomal Location of Human Ortholog: 19q13.1

Cellular Component: nucleoplasm; extracellular space; neuron projection; membrane; cytoplasm; plasma membrane; cytosol

Molecular Function: monosaccharide binding; glucose-6-phosphate isomerase activity; growth factor activity; cytokine activity; intramolecular transferase activity

Biological Process: aldehyde catabolic process; methylglyoxal biosynthetic process; glycolysis; glucose 6-phosphate metabolic process; glucose metabolic process; pathogenesis; negative regulation of caspase activity; humoral immune response; gluconeogenesis; learning and/or memory; hemostasis; carbohydrate metabolic process; negative regulation of neuron apoptosis; angiogenesis

Disease: Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency