AADAT

Chr 4

aminoadipate aminotransferase

Also known as: KAT2, KATII, KYAT2

NCBI Gene: 51166 ENSG00000109576 UniProt: Q8N5Z0 OMIM: 611754

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.51

LOEUF

Mechanism· predicted