AASS Antibody (C-Term) Blocking Peptide

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]

AASS: 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. Defects in AASS are the cause of hyperlysinemia (HYPLYS). Hyperlysinemia is an autosomal recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria.

Protein type: Amino Acid Metabolism - lysine degradation; EC 1.5.1.8; Oxidoreductase; Mitochondrial; Amino Acid Metabolism - lysine biosynthesis; EC 1.5.1.9

Chromosomal Location of Human Ortholog: 7q31.3

Cellular Component: intracellular membrane-bound organelle; mitochondrial matrix; mitochondrion

Molecular Function: saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity; saccharopine dehydrogenase (NADP+, L-lysine-forming) activity

Biological Process: lysine catabolic process; protein tetramerization

Disease: Hyperlysinemia, Type I; Saccharopinuria