GLUD1 Chromosome 10
Glutamate dehydrogenase 1
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What This Gene Does
This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
Associated Conditions (5)
Inborn genetic diseases
Hyperinsulinism-hyperammonemia syndrome
GLUD1-related disorder
Familial hyperinsulinemia
Familial hyperinsulinism
Key Variants
RS1167089639
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121909733
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS121909736
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS147496974
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Inborn genetic diseases, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS199752396
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS201872390
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS202067232
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS2133788907
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS2539813901
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS752866323
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS756259685
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Inborn genetic diseases, Hyperinsulinism-hyperammonemia syndrome
Health Risk
RS761375132
Conflicting classifications of pathogenicity
Hyperinsulinism-hyperammonemia syndrome, Inborn genetic diseases, Hyperinsulinism-hyperammonemia syndrome
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1167089639 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS121909733 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS121909736 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS147496974 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Inborn genetic diseases, Hyperinsulinism-hyperammonemia syndrome |
| RS199752396 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS201872390 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS202067232 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS2133788907 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS2539813901 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS752866323 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS756259685 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Inborn genetic diseases, Hyperinsulinism-hyperammonemia syndrome |
| RS761375132 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Inborn genetic diseases, Hyperinsulinism-hyperammonemia syndrome |
| RS774771496 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS797045597 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS886047374 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS886047379 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS892387294 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS121909734 | Health Risk | Likely pathogenic | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS1424693533 | Health Risk | Likely pathogenic | GLUD1-related disorder, GLUD1-related disorder |
| RS2133796065 | Health Risk | Likely pathogenic | — |
| RS121909731 | Health Risk | Pathogenic | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS121909735 | Health Risk | Pathogenic | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS1554906133 | Health Risk | Pathogenic | — |
| RS2133777379 | Health Risk | Pathogenic | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS2539820419 | Health Risk | Pathogenic | — |
| RS56275071 | Health Risk | Pathogenic | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS121909730 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinism-hyperammonemia syndrome, Familial hyperinsulinemia, Hyperinsulinism-hyperammonemia syndrome |
| RS121909737 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome |
| RS2539820425 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinism-hyperammonemia syndrome, Familial hyperinsulinism, Hyperinsulinism-hyperammonemia syndrome |