Alpha-aminoadipic semialdehyde synthase, mitochondrial
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|Symbols||AASS (; LKR/SDH; LKRSDH; LORSDH)|
|RNA expression pattern|
This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia.
- Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT (Jan 2001). "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia". Am J Hum Genet 66 (6): 1736–43. doi:10.1086/302919. PMC 1378037. PMID 10775527.
- "Entrez Gene: AASS aminoadipate-semialdehyde synthase".
- Papes F, Kemper EL, Cord-Neto G, et al. (2000). "Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse". Biochem. J. 344 Pt 2 (Pt 2): 555–63. PMC 1220675. PMID 10567240.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- AASS human gene location in the UCSC Genome Browser.
- AASS human gene details in the UCSC Genome Browser.
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