GOT2
Chr 16ARglutamic-oxaloacetic transaminase 2
Also known as: DEE82, KAT4, KATIV, KYAT4, mitAAT
Glutamic-oxaloacetic transaminase 2 (GOT2) is a mitochondrial enzyme that catalyzes amino acid transamination reactions, plays a key role in the malate-aspartate shuttle for intracellular NAD(H) redox balance, and facilitates cellular uptake of long-chain fatty acids. Biallelic mutations cause developmental and epileptic encephalopathy 82, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.623), affecting both neurological development and seizure control.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GOT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Early Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGIndole-3-PROpionic Acid Clinical Trials - Multiple Sclerosis
RECRUITINGAlcohol Misuse, Gut Microbial Dysbiosis and PrEP Care Continuum: Application and Efficacy of SBIRT Intervention
RECRUITINGEgg Intervention During Pregnancy in Indonesia
ACTIVE NOT RECRUITINGTributyrin Treatment in Mild Alzheimer Disease: Assessment of Butyrate Effects Via the Gut-Brain
NOT YET RECRUITINGUndiluted and Diluted Nutrition
NOT YET RECRUITINGTherapeutic Potential of a Synbiotic to Improve Mental Health in Subjects With Obesity.
RECRUITINGButyric Acid Supplementation for Gut Improvement After Cardiac Surgery in Kids
NOT YET RECRUITINGDiluted and Undiluted Enteral Nutrition
NOT YET RECRUITINGMyocardial Telomere Recapping Study for Dilated Cardiomyopathy
ACTIVE NOT RECRUITINGEffect of Synbiotic Supplementation on the Prevention of Mucositis in Cancer Patients Undergoing Chemotherapy
RECRUITINGModulation of Gut Microbiota Composition and Gut Permeability Profiles by Multispecies Synbiotic Supplementation in Hemodialysis Patients
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools