rs1295236919

This variant is located in the AADAT gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About AADAT

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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