Activities | Families | Sequences | Fold types | References | Help
B6db references: 12126930

type Journal Article
authors Goh, D. L.; Patel, A.; Thomas, G. H.; Salomons, G. S.; Schor, D. S.; Jakobs, C.; Geraghty, M. T.
title Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT)
journal Mol Genet Metab
sel selected
ui 12126930
year (2002)
volume 76
number 3
pages 172-80
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 activites had been previously identified in the rat (KAT/AadAT). We identified the human gene (AADAT) encoding for AADAT. It has a 2329bp cDNA, a 1278bp 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 30kb and consists of 13 exons. FISH studies localized the gene to 4q32.2. Two transcripts ( approximately 2.9 and approximately 4.7kb) 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.
last changed 2009/05/04 17:38

B6db references