Aliases for AASS Gene
External Ids for AASS Gene
Previous GeneCards Identifiers for AASS Gene
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]
GeneCards Summary for AASS Gene
AASS (Aminoadipate-Semialdehyde Synthase) is a Protein Coding gene. Diseases associated with AASS include Hyperlysinemia and Saccharopinuria. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Metabolism. GO annotations related to this gene include oxidoreductase activity and saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity.
UniProtKB/Swiss-Prot for AASS Gene
Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.