作者: Denise L.M Goh , Ankita Patel , George H Thomas , Gajja S Salomons , Danielle S.M Schor
DOI: 10.1016/S1096-7192(02)00037-9
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摘要: Abstract In mammals, the conversion of α-aminoadipate to α-ketoadipate by aminotransferase (AADAT) is an intermediate step in lysine degradation. A gene encoding for and kynurenine activites had been previously identified rat ( KAT/AadAT ). We human AADAT ) AADAT. It has a 2329 bp cDNA, 1278 bp open-reading frame, predicted encode 425 amino acids with mitochondrial cleavage signal pyridoxal-phosphate binding site. 73% 72% identical mouse orthologs, respectively. The genomic structure spans 30 kb consists 13 exons. FISH studies localized 4q32.2. Two transcripts (∼2.9 ∼4.7 kb were identified, expression highest liver. Bacterial confirm that encodes activity. availability DNA sequence enzyme assay will allow further evaluation individuals suspected have defects this enzyme.