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. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| AASS-20-RE | 20 (40 μL) | 200 μL |  |
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| AASS-20-OR | 20 (40 μL) | 200 μL |  |
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| AASS-20-GO | 20 (40 μL) | 200 μL |  |
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| AASS-20-GR | 20 (40 μL) | 200 μL |  |
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| AASS-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2008]
Gene Symbol : AASS
Gene Name : Aminoadipate-semialdehyde synthase
Chromosome : CHR 7: 122,144,289-122,073,543
Locus : 7q31.32
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