Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

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Goh DL, Patel A, Thomas GH, Salomons GS, Schor DS, Jakobs C, Geraghty MT

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

Mol Genet Metab. 2002 Jul;76(3):172-80.

PubMed ID

12126930 [ View in PubMed

]

Abstract

In mammals, the conversion of alpha-aminoadipate to alpha-ketoadipate by alpha-aminoadipate aminotransferase (AADAT) is an intermediate step in lysine degradation. A gene encoding for alpha-aminoadipate aminotransferase and kynurenine aminotransferase activities had been previously identified in the rat (KAT/AadAT). We identified the human gene (AADAT) encoding for AADAT. It has a 2329 bp cDNA, a 1278 bp open-reading frame, and is predicted to encode 425 amino acids with a mitochondrial cleavage signal and a pyridoxal-phosphate binding site. AADAT is 73% and 72% identical to the mouse and rat orthologs, respectively. The genomic structure spans 30 kb and consists of 13 exons. FISH studies localized the gene to 4q32.2. Two transcripts (approximately 2.9 and approximately 4.7 kb) were identified, with expression highest in liver. Bacterial expression studies confirm that the gene encodes for AADAT activity. The availability of the DNA sequence and enzyme assay will allow further evaluation of individuals suspected to have defects in this enzyme.

DrugBank Data that Cites this Article

Drug Targets

Drug	Target	Kind	Organism	Pharmacological Action	Actions
Pyridoxal phosphate	Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial	Protein	Humans	Unknown	Cofactor	Details

Polypeptides

Name	UniProt ID
Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial	Q8N5Z0	Details