catalytic activity:ATP + L-glutamate + NH(3) = ADP + phosphate + L-glutamine.,disease:Defects in GLUL are the cause of congenital systemic glutamine deficiency (CSGD) [MIM:610015]. CSGD is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine is largely absent from affected patients serum, urine and cerebrospinal fluid.,online information:Glutamine synthetase entry,similarity:Belongs to the glutamine synthetase family.,subunit:Homooctamer.,
Cytoplasm, cytosol . Microsome . Mitochondrion . Cell membrane ; Lipid-anchor . Mainly localizes in the cytosol, with a fraction associated with the cell membrane. .
Expressed in endothelial cells.
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