AADAT
Chr 4aminoadipate aminotransferase
Also known as: KAT2, KATII, KYAT2
This gene encodes kynurenine aminotransferase II, a transaminase enzyme that catalyzes the transamination of kynurenine to kynurenic acid (which has neuroprotective properties) and participates in lysine catabolism through alpha-aminoadipic acid transamination. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia. The gene shows moderate constraint against loss-of-function variants, indicating some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
98 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 | 0 | 0 | 53 | 0 | 53 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 19 | 4 | 0 | 23 |
Likely Benign | 0 | 2 | 1 | 0 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 21 | 61 | 0 | 82 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
AADAT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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