AADAT Gene (Aminoadipate Aminotransferase)
Key enzyme in tryptophan and lysine metabolism, linked to genetic disorders
Gene Information Card
| Symbol | AADAT |
|---|---|
| Full Name | Aminoadipate Aminotransferase |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 51166 ncbi.nlm.nih.gov/gene/51166 |
| Ensembl ID | ENSG00000109576 |
| UniProt ID | Q8N5Z0 |
| OMIM ID | 619521 |
| HGNC ID | 17929 |
| Aliases | KAT2, KATII, Kynurenine aminotransferase II, 2-aminoadipate transaminase |
Description
The AADAT gene encodes aminoadipate aminotransferase, a pyridoxal phosphate-dependent enzyme that catalyzes the transamination of 2-aminoadipate to 2-oxoadipate in the lysine degradation pathway and the conversion of kynurenine to kynurenic acid in the tryptophan catabolic pathway. This enzyme is also known as kynurenine aminotransferase II (KAT2). Mutations in AADAT are associated with aminoadipic aciduria and may contribute to neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aminoadipic aciduria | Deficiency in AADAT leads to accumulation of 2-aminoadipic acid in urine and plasma | ClinVar, OMIM |
| Neurodevelopmental disorder with hypotonia and seizures | Loss-of-function mutations impair kynurenic acid synthesis, affecting glutamatergic neurotransmission | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 5.1 | Medium |
| Small intestine | 4.2 | Medium |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.7 | Embryonic kidney cells |
| SH-SY5Y | 4.5 | Neuroblastoma cell line |
| A549 | 2.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Ter) | Nonsense | Rare | Loss of function; associated with aminoadipic aciduria |
| c.682G>A (p.Gly228Arg) | Missense | Rare | Reduced enzyme activity; reported in neurodevelopmental disorder |
| c.1240_1241del (p.Leu414ValfsTer5) | Frameshift | Rare | Loss of function; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce or abolish enzyme activity, leading to substrate accumulation (e.g., 2-aminoadipic acid) and disease.
Gain of Function (GOF)
No gain-of-function mutations reported for AADAT.
Dominant Negative (DN)
No dominant-negative mutations reported for AADAT.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004069 (GO:0004069) | • GO:0006520 (GO:0006520) |
| • GO:0006569 (GO:0006569) | • GO:0006570 (GO:0006570) |
| • GO:0005737 (GO:0005737) | • GO:0005829 (GO:0005829) |
| • GO:0030170 (GO:0030170) |
Pathways
• Lysine degradation (KEGG: hsa00310)
• Tryptophan metabolism (KEGG: hsa00380)
• Kynurenine pathway (Reactome: R-HSA-71240)
Protein Summary
Aminoadipate aminotransferase (AADAT) is a 425-amino acid protein that functions as a homodimer. It localizes to the cytoplasm and mitochondria. The enzyme uses pyridoxal phosphate as a cofactor to catalyze transamination reactions critical for amino acid catabolism. In the brain, it synthesizes kynurenic acid, a neuroprotective antagonist of glutamate receptors. Structural studies reveal a typical aminotransferase fold with a large and small domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AADAT Knockout HEK293 Cell Line | EDJ-KQ10956 | Human | 51166 | Details Get a Quote |
| AADAT Knockout A-549 Cell Line | EDJ-KQ38757 | Human | 51166 | Details Get a Quote |
| AADAT Knockout HCT 116 Cell Line | EDJ-KQ38758 | Human | 51166 | Details Get a Quote |
| AADAT Knockout HeLa Cell Line | EDJ-KQ38759 | Human | 51166 | Details Get a Quote |
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