Please use this identifier to cite or link to this item:
|Title:||Characterization of the human gene encoding α-aminoadipate aminotransferase (AADAT)|
|Authors:||Goh, D.L.M. |
|Citation:||Goh, D.L.M., Patel, A., Thomas, G.H., Salomons, G.S., Schor, D.S.M., Jakobs, C., Geraghty, M.T. (2002). Characterization of the human gene encoding α-aminoadipate aminotransferase (AADAT). Molecular Genetics and Metabolism 76 (3) : 172-180. ScholarBank@NUS Repository. https://doi.org/10.1016/S1096-7192(02)00037-9|
|Abstract:||In mammals, the conversion of α-aminoadipate to α-ketoadipate by α-aminoadipate aminotransferase (AADAT) is an intermediate step in lysine degradation. A gene encoding for α-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 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 (∼ 2:9 and ∼ 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. © 2002 Elsevier Science (USA). All rights reserved.|
|Source Title:||Molecular Genetics and Metabolism|
|Appears in Collections:||Staff Publications|
Show full item record
Files in This Item:
There are no files associated with this item.
checked on Dec 18, 2018
WEB OF SCIENCETM
checked on Dec 11, 2018
checked on Dec 7, 2018
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.