GLUL Chromosome 1
Glutamate-ammonia ligase
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What This Gene Does
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]
Associated Conditions (5)
Congenital brain dysgenesis due to glutamine synthetase deficiency
Glutamine synthetase stabilization disorder
Developmental and epileptic encephalopathy
16
Developmental and epileptic encephalopathy 116
Key Variants
RS187277313
Conflicting classifications of pathogenicity
Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
Health Risk
RS199824213
Conflicting classifications of pathogenicity
Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
Health Risk
RS2101936731
Conflicting classifications of pathogenicity
Glutamine synthetase stabilization disorder, Developmental and epileptic encephalopathy, 16
Health Risk
RS369280031
Conflicting classifications of pathogenicity
Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
Health Risk
RS370070318
Conflicting classifications of pathogenicity
Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
Health Risk
RS549137282
Conflicting classifications of pathogenicity
Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
Health Risk
RS1650080437
Likely pathogenic
Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
Health Risk
RS1650179029
Pathogenic
Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
Health Risk
RS80358214
Pathogenic
Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
Health Risk
RS80358215
Pathogenic
Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
Health Risk
RS1131691970
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy, 16, Glutamine synthetase stabilization disorder
Health Risk
RS2525592797
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy, 16, Glutamine synthetase stabilization disorder
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS187277313 | Health Risk | Conflicting classifications of pathogenicity | Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency |
| RS199824213 | Health Risk | Conflicting classifications of pathogenicity | Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency |
| RS2101936731 | Health Risk | Conflicting classifications of pathogenicity | Glutamine synthetase stabilization disorder, Developmental and epileptic encephalopathy, 16 |
| RS369280031 | Health Risk | Conflicting classifications of pathogenicity | Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency |
| RS370070318 | Health Risk | Conflicting classifications of pathogenicity | Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency |
| RS549137282 | Health Risk | Conflicting classifications of pathogenicity | Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency |
| RS1650080437 | Health Risk | Likely pathogenic | Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency |
| RS1650179029 | Health Risk | Pathogenic | Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency |
| RS80358214 | Health Risk | Pathogenic | Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency |
| RS80358215 | Health Risk | Pathogenic | Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency |
| RS1131691970 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 16, Glutamine synthetase stabilization disorder |
| RS2525592797 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 16, Glutamine synthetase stabilization disorder |