Aliases for GLUL Gene
External Ids for GLUL Gene
Previous HGNC Symbols for GLUL Gene
Previous GeneCards Identifiers for GLUL Gene
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]
GeneCards Summary for GLUL Gene
GLUL (Glutamate-Ammonia Ligase) is a Protein Coding gene. Diseases associated with GLUL include glutamine deficiency, congenital and congenital brain dysgenesis due to glutamine synthetase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include identical protein binding and manganese ion binding.
UniProtKB/Swiss-Prot for GLUL Gene
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 (By similarity). Essential for proliferation of fetal skin fibroblasts.