ID:AASS_HUMAN DESCRIPTION: RecName: Full=Alpha-aminoadipic semialdehyde synthase, mitochondrial; AltName: Full=LKR/SDH; Includes: RecName: Full=Lysine ketoglutarate reductase; Short=LKR; Short=LOR; EC=1.5.1.8; Includes: RecName: Full=Saccharopine dehydrogenase; Short=SDH; EC=1.5.1.9; Flags: Precursor; FUNCTION: 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. CATALYTIC ACTIVITY: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine + 2-oxoglutarate + NADPH. CATALYTIC ACTIVITY: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate + (S)-2-amino-6-oxohexanoate + NADH. PATHWAY: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 1/6. PATHWAY: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 2/6. SUBUNIT: Homodimer (By similarity). SUBCELLULAR LOCATION: Mitochondrion (By similarity). TISSUE SPECIFICITY: Expressed in all 16 tissues examined with highest expression in the liver. INDUCTION: Induced by starvation (By similarity). DISEASE: Defects in AASS are the cause of hyperlysinemia (HYPLYS) [MIM:238700]. Hyperlysinemia is an autosomal recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria. SIMILARITY: In the N-terminal section; belongs to the AlaDH/PNT family. SIMILARITY: In the C-terminal section; belongs to the saccharopine dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AASS";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UDR5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006091 generation of precursor metabolites and energy GO:0006554 lysine catabolic process GO:0008152 metabolic process GO:0019477 L-lysine catabolic process GO:0019878 lysine biosynthetic process via aminoadipic acid GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine GO:0051262 protein tetramerization GO:0055114 oxidation-reduction process
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
