GLS Chromosome 2
Glutaminase
Upload your DNA to see your personal genotypes for variants in GLS.
What This Gene Does
This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
2q32.2
Ensembl
ENSG00000115419
Associated Conditions (11)
Inborn genetic diseases
Developmental and epileptic encephalopathy
71
Esophageal atresia/tracheoesophageal fistula
Infantile cataract
skin abnormalities
glutamate excess
and impaired intellectual development
Global developmental delay
progressive ataxia
and elevated glutamine
Key Variants
RS2470309265
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 71
Health Risk
RS1452952856
Likely pathogenic
Health Risk
RS1691037804
Likely pathogenic
Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
Health Risk
RS2124851950
Likely pathogenic
Infantile cataract, skin abnormalities, glutamate excess
Health Risk
RS2124894940
Likely pathogenic
Health Risk
RS2470308961
Likely pathogenic
Developmental and epileptic encephalopathy, 71, Developmental and epileptic encephalopathy
Health Risk
RS1212883982
Pathogenic
Global developmental delay, progressive ataxia, and elevated glutamine
Health Risk
RS1558971345
Pathogenic
Developmental and epileptic encephalopathy, 71, Developmental and epileptic encephalopathy
Health Risk
RS1558972120
Pathogenic
Developmental and epileptic encephalopathy, 71, Developmental and epileptic encephalopathy
Health Risk
RS1558973667
Pathogenic
Global developmental delay, progressive ataxia, and elevated glutamine
Health Risk
RS1558986214
Pathogenic
Infantile cataract, skin abnormalities, glutamate excess
Health Risk
RS1559310284
Pathogenic
Developmental and epileptic encephalopathy, 71, Developmental and epileptic encephalopathy
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2470309265 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 71 |
| RS1452952856 | Health Risk | Likely pathogenic | — |
| RS1691037804 | Health Risk | Likely pathogenic | Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula |
| RS2124851950 | Health Risk | Likely pathogenic | Infantile cataract, skin abnormalities, glutamate excess |
| RS2124894940 | Health Risk | Likely pathogenic | — |
| RS2470308961 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 71, Developmental and epileptic encephalopathy |
| RS1212883982 | Health Risk | Pathogenic | Global developmental delay, progressive ataxia, and elevated glutamine |
| RS1558971345 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 71, Developmental and epileptic encephalopathy |
| RS1558972120 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 71, Developmental and epileptic encephalopathy |
| RS1558973667 | Health Risk | Pathogenic | Global developmental delay, progressive ataxia, and elevated glutamine |
| RS1558986214 | Health Risk | Pathogenic | Infantile cataract, skin abnormalities, glutamate excess |
| RS1559310284 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 71, Developmental and epileptic encephalopathy |
| RS2124915767 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 71, Developmental and epileptic encephalopathy |