KYAT1
Chr 9kynurenine aminotransferase 1
Also known as: CCBL1, GTK, KAT1, KATI
This enzyme catalyzes the irreversible transamination of L-kynurenine to form kynurenic acid, a broad-spectrum antagonist of ionotropic excitatory amino acid receptors, and also metabolizes cysteine conjugates of halogenated compounds to form reactive metabolites that can cause nephrotoxicity and neurotoxicity. Increased enzyme levels have been associated with schizophrenia, though specific Mendelian diseases caused by KYAT1 mutations have not been established. The gene shows tolerance to loss-of-function variation, suggesting a dominant-negative mechanism if pathogenic mutations occur.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KYAT1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools