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FLASH GENE
Symbol AASS contributors: - updated : 05-05-2006
HGNC name aminoadipate-semialdehyde synthase
HGNC id 17366
Corresponding disease
AASS familial hyperlysenemia
SCDD saccharopine dehydrogenase deficiency
Location 7q31.3      Physical location : 121.713.599 - 121.784.344
Synonym name
  • alpha-aminoacidic semialdehyde synthetase
  • lysine-ketoglutarate reductase /saccharopine dehydrogenase
  • Synonym symbol(s) LKR/SDH, LORSDH, LKRSDH
    EC.number 1.5.1.7, 1.5.1.9
    DNA
    TYPE functioning gene
    STRUCTURE 57.00 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D7S655 - AASS AASS - D7S686 - qter
    Authors Gene Map (98)
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to yeast S.cerevisiae LYS1/LYS9
    ortholog to murine Aass
    Homologene
    FAMILY
  • AlaDH/PNT family in the N-terminal section
  • saccharopine dehydrogenase family in the C-terminal section
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION . bifunctional enzyme catalyzing the first two steps in the mammalian lysine degradation pathway
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism aminoacid
    signaling
    lysine catabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    induced by starvation
    ASSOCIATED DISORDERS
    corresponding disease(s) AASS , SCDD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS