Glutamine Synthase (GLUL) Antibody – Rabbit

The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia. Glutamine is a main source of energy and is involved in cell proliferation, inhibition of apoptosis, and cell signaling. This gene is expressed during early fetal stages, and plays an important role in controlling body pH by removing ammonia from circulation. Mutations in this gene are associated with congenital glutamine deficiency. Several alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]

GLUL: This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner. Essential for proliferation of fetal skin fibroblasts. Defects in GLUL are the cause of congenital systemic glutamine deficiency (CSGD). 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. Belongs to the glutamine synthetase family.

Protein type: EC 6.3.1.2; Ligase; Amino Acid Metabolism - arginine and proline; EC 4.1.1.15; Amino Acid Metabolism - alanine, aspartate and glutamate; Energy Metabolism - nitrogen

Chromosomal Location of Human Ortholog: 1q31

Cellular Component: protein complex; mitochondrion; rough endoplasmic reticulum; cytoplasm; perikaryon; nerve terminal; nucleus; cytosol

Molecular Function: glutamate-ammonia ligase activity; identical protein binding; dynein light chain binding; glutamate binding; glutamate decarboxylase activity; manganese ion binding; magnesium ion binding; ATP binding

Biological Process: glutamate catabolic process; cell proliferation; synaptic transmission; glutamine biosynthetic process; response to glucose stimulus; positive regulation of insulin secretion; neurotransmitter uptake; amino acid biosynthetic process; cellular response to starvation; positive regulation of synaptic transmission, glutamatergic; positive regulation of epithelial cell proliferation; protein homooligomerization

Disease: Glutamine Deficiency, Congenital