GOT2 Chromosome 16
Glutamic-oxaloacetic transaminase 2
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What This Gene Does
Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Gene Info
Gene Group
Glutamic-oxaloacetic transaminase family
Locus Type
gene with protein product
Location
16q21
Ensembl
ENSG00000125166
Associated Conditions (2)
Developmental and epileptic encephalopathy
82
Key Variants
RS151225545
Conflicting classifications of pathogenicity
Health Risk
RS557150117
Conflicting classifications of pathogenicity
Health Risk
RS1247507359
Likely pathogenic
Developmental and epileptic encephalopathy, 82, Developmental and epileptic encephalopathy
Health Risk
RS1473654961
Likely pathogenic
Developmental and epileptic encephalopathy, 82, Developmental and epileptic encephalopathy
Health Risk
RS1597696047
Likely pathogenic
Developmental and epileptic encephalopathy, 82, Developmental and epileptic encephalopathy
Health Risk
RS752927520
Likely pathogenic
Developmental and epileptic encephalopathy, 82, Developmental and epileptic encephalopathy
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS151225545 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS557150117 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1247507359 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 82, Developmental and epileptic encephalopathy |
| RS1473654961 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 82, Developmental and epileptic encephalopathy |
| RS1597696047 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 82, Developmental and epileptic encephalopathy |
| RS752927520 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 82, Developmental and epileptic encephalopathy |