ABAT
Chr 16AR4-aminobutyrate aminotransferase
Also known as: GABA-AT, GABAT, NPD009
4-aminobutyrate aminotransferase catalyzes the breakdown of GABA, the brain's primary inhibitory neurotransmitter, into succinate semialdehyde. Mutations cause GABA-transaminase deficiency, an autosomal recessive disorder characterized by early-onset psychomotor retardation, hypotonia, hyperreflexia, lethargy, and refractory seizures with EEG abnormalities. The gene shows moderate intolerance to loss-of-function variants (LOEUF 0.567).
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 4 | 0 | 1 | 0 | 5 |
Likely Pathogenic | 1 | 0 | 2 | 0 | 3 |
VUS | 0 | 36 | 4 | 0 | 40 |
Likely Benign | 2 | 3 | 72 | 50 | 127 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 7 | 39 | 80 | 51 | 177 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ABAT · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools