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AASS
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For Research Use Only. Not For Clinical Use.
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Astrocytes, Oligodendrocytes, Hepatocytes, Oligodendrocyte precursor cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (AN3-CA, NTERA-2, SuSa)
Interaction
Homotetramer.
Molecular function
Multifunctional enzyme, Oxidoreductase
More Types Infomation