alpha-aminoadipic semialdehyde synthase, mitochondrial; LKR/SDH; includes: lysine ketoglutarate reductase; LKR; LOR; saccharopine dehydrogenase; SDH (AASS)

Function

• bifunctional enzyme
  • lysine-ketoglutarate reductase (N-terminal)
  • saccharopine dehydrogenase (C-terminal)
• catalyzes the first 2 steps in lysine degradation

Structure

• homodimer
• in the N-terminal section; belongs to the AlaDH/PNT family
• in the C-terminal section; belongs to the saccharopine dehydrogenase family

Compartment

mitochondria

Expression

• expressed in all tissues
• highest expression in liver
• induced by starvation

Pathology

• defects in AASS are the cause of hyperlysinemia

More general terms

• dehydrogenase
• mitochondrial protein

Additional terms

• hyperlysinemia

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=10157
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:10157
• OMIM: https://mirror.omim.org/entry/238700
• OMIM: https://mirror.omim.org/entry/605113
• UniProt: http://www.uniprot.org/uniprot/Q9UDR5.html