GLUL Antibody – Mouse Monoclonal

The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

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: Amino Acid Metabolism - arginine and proline; EC 6.3.1.2; Ligase; 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; glutamate binding; dynein light chain binding; glutamate decarboxylase activity; manganese ion binding; magnesium ion binding; ATP binding

Biological Process: synaptic transmission; glutamate catabolic process; cell proliferation; 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; protein homooligomerization; positive regulation of epithelial cell proliferation

Disease: Glutamine Deficiency, Congenital