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, Type I and Saccharopinuria. Among its related pathways are Lysine degradation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity.
UniProtKB/Swiss-Prot Summary 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.